Bones, muscles, and connective tissues

Connective tissue is a broad term for supportive tissues that provide the body’s framework. Connective tissues include bones, muscles, cartilage, and tendons. There are a number of disorders that are caused by defects in genes important for the formation and function of connective tissue.

• Aarskog-Scott syndrome
• Aarskog syndrome see Aarskog-Scott syndrome
• AAS see Aarskog-Scott syndrome
• absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation see genitopatellar syndrome
• ACADS deficiency see short-chain acyl-CoA dehydrogenase deficiency
• acanthocytosis with neurologic disorder see chorea-acanthocytosis
• ACH see achondroplasia
• achondrogenesis
• achondroplasia
• Acid ceramidase deficiency see Farber lipogranulomatosis
• acid maltase deficiency see Pompe disease
• Acral dysostosis with facial and genital abnormalities see Robinow syndrome
• Acrocephalosyndactyly (Apert) see Apert syndrome
• acrocephalosyndactyly III see Saethre-Chotzen syndrome
• Acrocephalosyndactyly, type III see Saethre-Chotzen syndrome
• acrocephalosyndactyly, type V see Pfeiffer syndrome
• Acrocephaly, Skull Asymmetry, and Mild Syndactyly see Saethre-Chotzen syndrome
• acrodental dysostosis of Weyers see Weyers acrofacial dysostosis
• acrofacial dysostosis 1, Nager type see Nager syndrome
• ACS III see Saethre-Chotzen syndrome
• ACS V see Pfeiffer syndrome
• ACS3 see Saethre-Chotzen syndrome
• ACS5 see Pfeiffer syndrome
• actin-accumulation myopathy
• actin filament aggregate myopathy see actin-accumulation myopathy
• actin myopathy see actin-accumulation myopathy
• adenosine monophosphate deaminase deficiency
• adiposalgia see adiposis dolorosa
• adipose tissue rheumatism see adiposis dolorosa
• adiposis dolorosa
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• Adynamia Episodica Hereditaria see hyperkalemic periodic paralysis
• AEC syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• AFD1 see Nager syndrome
• AGL deficiency see glycogen storage disease type III
• AKU see alkaptonuria
• Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome
• Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
• Albright-Sternberg syndrome see McCune-Albright syndrome
• Albright Syndrome see McCune-Albright syndrome
• Albright's disease see McCune-Albright syndrome
• Alcaptonuria see alkaptonuria
• ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
• alkaptonuria
• Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis see Alpers-Huttenlocher syndrome
• Alpers disease see Alpers-Huttenlocher syndrome
• Alpers-Huttenlocher syndrome
• Alpers progressive infantile poliodystrophy see Alpers-Huttenlocher syndrome
• Alpers syndrome see Alpers-Huttenlocher syndrome
• alpha-1,4-glucosidase deficiency see Pompe disease
• ALS see amyotrophic lateral sclerosis
• AMCD1 see distal arthrogryposis type 1
• AMD see Pompe disease
• Amish brittle hair syndrome see trichothiodystrophy
• AMP deaminase deficiency see adenosine monophosphate deaminase deficiency
• amyotrophic lateral sclerosis
• Amyotrophic Neuralgia see hereditary neuralgic amyotrophy
• anal-ear-renal-radial malformation syndrome see Townes-Brocks Syndrome
• Anders syndrome see adiposis dolorosa
• Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
• Andersen syndrome see Andersen-Tawil syndrome
• Andersen-Tawil syndrome
• anesthesia related hyperthermia see malignant hyperthermia
• angio-osteohypertrophy syndrome see Klippel-Trenaunay syndrome
• ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• ankylosing spondylitis
• ANS see ataxia neuropathy spectrum
• Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• Antley-Bixler syndrome with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• AO2 see atelosteogenesis type 2
• AOI see atelosteogenesis type 1
• AOIII see atelosteogenesis type 3
• Apert syndrome
• Appelt-Gerken-Lenz syndrome see Roberts syndrome
• ARSACS see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• arterial tortuosity syndrome
• arthritis, juvenile rheumatoid see juvenile idiopathic arthritis
• arthrocutaneouveal granulomatosis see Blau syndrome
• arthrogryposis, distal, type 1 see distal arthrogryposis type 1
• Arylsulfatase B deficiency see mucopolysaccharidosis type VI
• arylsulfatase E deficiency see X-linked chondrodysplasia punctata 1
• AS see ankylosing spondylitis
• asphyxiating thoracic dystrophy
• asymmetric hypoplasia of facial structures see craniofacial microsomia
• ataxia neuropathy spectrum
• ataxia with oculomotor apraxia
• ataxia with vitamin E deficiency
• atelosteogenesis type 1
• atelosteogenesis type 2
• atelosteogenesis type 3
• Atrio-digital syndrome see Holt-Oram syndrome
• Atriodigital dysplasia see Holt-Oram syndrome
• ATS see Andersen-Tawil syndrome; arterial tortuosity syndrome
• auriculo-condylar syndrome
• auriculobranchiogenic dysplasia see craniofacial microsomia
• auriculocondylar syndrome see auriculo-condylar syndrome
• Autosomal dominant craniometaphyseal dysplasia see craniometaphyseal dysplasia
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Autosomal Dominant Hereditary Spastic Paraplegia see spastic paraplegia type 4
• autosomal dominant myotubular myopathy see centronuclear myopathy
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• autosomal recessive centronuclear myopathy see centronuclear myopathy
• Autosomal recessive craniometaphyseal dysplasia see craniometaphyseal dysplasia
• autosomal recessive distal spinal muscular atrophy 1 see spinal muscular atrophy with respiratory distress type 1
• Autosomal Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 7; Troyer syndrome
• autosomal recessive Larsen syndrome see CHST3-related skeletal dysplasia
• autosomal recessive spastic ataxia of Charlevoix-Saguenay
• AVED see ataxia with vitamin E deficiency
• Baller-Gerold syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Ruvalcaba-Riley syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bartholin-Patau syndrome see trisomy 13
• BDLS see Cornelia de Lange syndrome
• Beals-Hecht syndrome see congenital contractural arachnodactyly
• Beals syndrome see congenital contractural arachnodactyly
• Beare-Stevenson cutis gyrata syndrome
• Bechterew Disease see ankylosing spondylitis
• benign congenital muscular dystrophy see Bethlem myopathy
• benign congenital myopathy with contractures see Bethlem myopathy
• Benign scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy
• Bessel-Hagen disease see hereditary multiple exostoses
• beta-glucuronidase deficiency see mucopolysaccharidosis type VII
• Bethlem myopathy
• Beuren syndrome see Williams syndrome
• BGS see Baller-Gerold syndrome
• BIDS syndrome see trichothiodystrophy
• Blau syndrome
• blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Bloom syndrome
• BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• BOFS see branchio-oculo-facial syndrome
• boomerang dysplasia
• Brachial Neuralgia see hereditary neuralgic amyotrophy
• Brachial Neuritis see hereditary neuralgic amyotrophy
• Brachial Plexus Neuritis see hereditary neuralgic amyotrophy
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• brachydactyly-mental retardation syndrome see 2q37 deletion syndrome
• branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging see branchio-oculo-facial syndrome
• branchio-oculo-facial syndrome
• Brittle bone disease see osteogenesis imperfecta
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• Brody myopathy
• BRRS see Bannayan-Riley-Ruvalcaba syndrome
• Buckley syndrome see Job syndrome
• bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
• BZS see Bannayan-Riley-Ruvalcaba syndrome
• campomelic dysplasia
• Camptomelic dysplasia see campomelic dysplasia
• Camurati-Engelmann disease
• Cantú syndrome
• cap myopathy
• Cardiac-limb syndrome see Holt-Oram syndrome
• cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• cardiofaciocutaneous syndrome
• carnitine palmitoyltransferase II deficiency
• carnitine transporter deficiency see primary carnitine deficiency
• carnitine uptake defect see primary carnitine deficiency
• carnitine uptake deficiency see primary carnitine deficiency
• cartilage-hair hypoplasia
• CATCH22 see 22q11.2 deletion syndrome
• Catlin marks see enlarged parietal foramina
• CAVE complex see Pallister-Hall syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CCA see congenital contractural arachnodactyly
• CCD see central core disease
• CCO see central core disease
• CDHS see craniofacial-deafness-hand syndrome
• CDLS see Cornelia de Lange syndrome
• CDMD see CHST3-related skeletal dysplasia
• CDPX1 see X-linked chondrodysplasia punctata 1
• CDPX2 see X-linked chondrodysplasia punctata 2
• CDS see Chanarin-Dorfman syndrome
• CED see Camurati-Engelmann disease
• central core disease
• centronuclear myopathy
• cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
• Ceramidase deficiency see Farber lipogranulomatosis
• cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
• Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
• cervical fusion syndrome see Klippel-Feil syndrome
• CFC syndrome see cardiofaciocutaneous syndrome
• CFEOM see congenital fibrosis of the extraocular muscles
• CFM see craniofacial microsomia
• CFTD see congenital fiber-type disproportion
• CHAC see chorea-acanthocytosis
• Chanarin-Dorfman syndrome
• Char syndrome
• Charcot disease see amyotrophic lateral sclerosis
• Charcot-Marie-Tooth disease
• Charlevoix-Saguenay spastic ataxia see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• cherry red spot myoclonus syndrome see sialidosis
• cherubism
• CHH see cartilage-hair hypoplasia
• CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• childhood myocerebrohepatopathy spectrum
• childhood-onset primary osteoporosis see juvenile primary osteoporosis
• chondrodysplasia punctata 1, X-linked see X-linked chondrodysplasia punctata 1
• chondrodysplasia punctata 2, X-linked see X-linked chondrodysplasia punctata 2
• chondrodysplasia punctata, rhizomelic see rhizomelic chondrodysplasia punctata
• chondrodysplasia with hemangioma see Maffucci syndrome
• chondrodysplasia with multiple dislocations see CHST3-related skeletal dysplasia
• chondrodystrophy, hydropic and prenatally lethal type see Greenberg dysplasia
• Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
• chondroectodermal dysplasia see Ellis-van Creveld syndrome
• chondroectodermal dysplasia-like syndrome see asphyxiating thoracic dystrophy
• chondroplasia angiomatosis see Maffucci syndrome
• chorea-acanthocytosis
• choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
• Chotzen syndrome see Saethre-Chotzen syndrome
• chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
• chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
• chromosome 4p monosomy see Wolf-Hirschhorn syndrome
• chromosome 11p11.2 deletion syndrome see Potocki-Shaffer syndrome
• chromosome 17p deletion syndrome see Smith-Magenis syndrome
• chronic congenital idiopathic hyperphosphatasemia see juvenile Paget disease
• chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic progressive external ophthalmoplegia see progressive external ophthalmoplegia
• chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome
• CHST3-related skeletal dysplasia
• CINCA see neonatal onset multisystem inflammatory disease
• CIPA see congenital insensitivity to pain with anhidrosis
• CISS see cold-induced sweating syndrome
• Classical Niemann-Pick Disease see Niemann-Pick disease
• cleidocranial dysplasia
• CLS see Coffin-Lowry syndrome
• CMD see craniometaphyseal dysplasia
• CMS see congenital myasthenic syndrome
• CMT see Charcot-Marie-Tooth disease
• CNM see X-linked myotubular myopathy
• CNTF receptor-related disorders see cold-induced sweating syndrome
• Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
• Cockayne syndrome
• Coffin-Lowry syndrome
• cold hypersensitivity see familial cold autoinflammatory syndrome
• cold-induced sweating syndrome
• combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
• complete HPRT deficiency see Lesch-Nyhan syndrome
• complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• Complete trisomy 13 syndrome see trisomy 13
• complete trisomy 18 syndrome see trisomy 18
• complex IV deficiency see cytochrome c oxidase deficiency
• congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
• congenital contractural arachnodactyly
• congenital dysplastic angiopathy see Klippel-Trenaunay syndrome
• congenital fiber-type disproportion
• congenital fibrosis of the extraocular muscles
• congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• congenital insensitivity to pain see hereditary sensory and autonomic neuropathy type V
• congenital insensitivity to pain with anhidrosis
• Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
• Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
• congenital myasthenic syndrome
• congenital myopathy with caps see cap myopathy
• congenital myopathy with excess of thin filaments see actin-accumulation myopathy
• Congenital myotonia see myotonia congenita
• congenital osteopetrosis see osteopetrosis
• Congenital poikiloderma see Rothmund-Thomson Syndrome
• congenital scoliosis with unilateral unsegmented bar see spondylocarpotarsal synostosis syndrome
• congenital sensory neuropathy see hereditary sensory and autonomic neuropathy type II
• congenital synspondylism see spondylocarpotarsal synostosis syndrome
• congenital telangiectatic erythema see Bloom syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• Conradi-Hünermann-Happle syndrome see X-linked chondrodysplasia punctata 2
• Conradi-Hünermann Syndrome see X-linked chondrodysplasia punctata 2
• contractural arachnodactyly, congenital see congenital contractural arachnodactyly
• Cori disease see glycogen storage disease type III
• Cornelia de Lange syndrome
• COX deficiency see cytochrome c oxidase deficiency
• CPEO see progressive external ophthalmoplegia
• CPT II deficiency see carnitine palmitoyltransferase II deficiency
• CPT2 deficiency see carnitine palmitoyltransferase II deficiency
• craniocarpotarsal dysplasia see Freeman-Sheldon syndrome
• craniocarpotarsal dystrophy see Freeman-Sheldon syndrome
• craniofacial-deafness-hand syndrome
• Craniofacial dysarthrosis see Crouzon syndrome
• Craniofacial Dysostosis see Crouzon syndrome
• craniofacial microsomia
• Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
• craniometaphyseal dysplasia
• cranioorodigital syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
• Craniosynostosis with radial defects see Baller-Gerold syndrome
• cranium bifidum see enlarged parietal foramina
• CRASH syndrome see L1 syndrome
• Crisponi syndrome see cold-induced sweating syndrome
• Cross-McKusick syndrome see Troyer syndrome
• Crouzon syndrome
• Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
• Crouzonodermoskeletal syndrome
• CS see Cockayne syndrome
• CUD see primary carnitine deficiency
• Curry-Hall syndrome see Weyers acrofacial dysostosis
• Cutaneous ossification see progressive osseous heteroplasia
• Cutis gyrata syndrome of Beare and Stevenson see Beare-Stevenson cutis gyrata syndrome
• cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
• cutis laxa
• Cystine storage disease see cystinosis
• Cystinoses see cystinosis
• cystinosis
• cytochrome c oxidase deficiency
• cytochrome P450 oxidoreductase deficiency
• Czech dysplasia
• DA1 see distal arthrogryposis type 1
• DA2A see Freeman-Sheldon syndrome
• DAF syndrome see Niemann-Pick disease
• Danon disease
• Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• DBMD see Duchenne and Becker muscular dystrophy
• DCO see Léri-Weill dyschondrosteosis
• De la Chapelle dysplasia see atelosteogenesis type 2
• De Lange Syndrome see Cornelia de Lange syndrome
• deafness-dystonia-optic neuronopathy syndrome
• Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
• deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
• debrancher deficiency see glycogen storage disease type III
• deficiency mutase phosphoglycerate see phosphoglycerate mutase deficiency
• Deficiency of alkaline phosphatase see hypophosphatasia
• deficiency of alpha-glucosidase see Pompe disease
• deficiency of butyryl-CoA dehydrogenase see short-chain acyl-CoA dehydrogenase deficiency
• deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
• deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
• deficiency of lactate dehydrogenase see lactate dehydrogenase deficiency
• 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• 2q37 deletion syndrome
• 4p deletion syndrome see Wolf-Hirschhorn syndrome
• 11q deletion disorder see Jacobsen syndrome
• 11q deletion syndrome see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• 15q24 deletion see 15q24 microdeletion
• deletion 17p syndrome see Smith-Magenis syndrome
• 22q11.2 deletion syndrome
• dementia with amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
• Dercum disease see adiposis dolorosa
• Dercum-Vitaut syndrome see adiposis dolorosa
• dermatolysis see cutis laxa
• dermatomegaly see cutis laxa
• DGSX see Simpson-Golabi-Behmel syndrome
• DHMN-V see distal hereditary motor neuropathy, type V
• DHMN6 see spinal muscular atrophy with respiratory distress type 1
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• diaphragmatic spinal muscular atrophy see spinal muscular atrophy with respiratory distress type 1
• diaphyseal aclasis see hereditary multiple exostoses
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• diastrophic dysplasia
• diffuse cerebral sclerosis of Schilder see Alpers-Huttenlocher syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• distal arthrogryposis type 1
• distal arthrogryposis, type 2A see Freeman-Sheldon syndrome
• distal hereditary motor neuronopathy type VI see spinal muscular atrophy with respiratory distress type 1
• distal hereditary motor neuropathy, type II
• distal hereditary motor neuropathy, type V
• Distal myopathy 1 see Laing distal myopathy
• distal myopathy 2
• Distal myopathy with rimmed vacuoles see inclusion body myopathy 2
• distal spinal muscular atrophy type 1 see spinal muscular atrophy with respiratory distress type 1
• DMRV see inclusion body myopathy 2
• dolichospondylic dysplasia see 3-M syndrome
• DRRS see Duane-radial ray syndrome
• DSMA1 see spinal muscular atrophy with respiratory distress type 1
• DSMAV see distal hereditary motor neuropathy, type V
• DTD see diastrophic dysplasia
• Duane-radial ray syndrome
• Duchenne and Becker muscular dystrophy
• duplication/inversion 15q11 see isodicentric chromosome 15 syndrome
• dwarf, achondroplastic see achondroplasia
• Dwarf, thanatophoric see thanatophoric dysplasia
• dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
• dyschondroplasia and cavernous hemangioma see Maffucci syndrome
• dyschondrosteosis see Léri-Weill dyschondrosteosis
• dyschondrosteosis homozygous see Langer mesomelic dysplasia
• dysgnathia complex see auriculo-condylar syndrome
• dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
• dysplasia linguofacialis see oral-facial-digital syndrome
• Dysplasia, Spondyloepiphyseal see X-linked spondyloepiphyseal dysplasia tarda
• Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
• dystonia musculorum deformans see X-linked dystonia-parkinsonism
• Dystonia musculorum deformans 1 see early-onset primary dystonia
• Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism
• dystrophia myotonica see myotonic dystrophy
• DYT1 see early-onset primary dystonia
• DYT3 see X-linked dystonia-parkinsonism
• EAOH see ataxia with oculomotor apraxia
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
• early-onset myopathy with fatal cardiomyopathy see Salih myopathy
• early-onset primary dystonia
• early-onset sarcoidosis see Blau syndrome
• Ectopic Ossification see progressive osseous heteroplasia
• EDM1 see multiple epiphyseal dysplasia
• EDM2 see multiple epiphyseal dysplasia
• EDM3 see multiple epiphyseal dysplasia
• EDM4 see multiple epiphyseal dysplasia
• EDM5 see multiple epiphyseal dysplasia
• EDMD see Emery-Dreifuss muscular dystrophy
• EDS see Ehlers-Danlos syndrome
• Edstrom myopathy see hereditary myopathy with early respiratory failure
• Edwards syndrome see trisomy 18
• Ehlers-Danlos syndrome
• Elfin Facies Syndrome see Williams syndrome
• Elfin facies with hypercalcemia see Williams syndrome
• Ellis-van Creveld syndrome
• Emery-Dreifuss muscular dystrophy
• enchondromatosis with hemangiomata see Maffucci syndrome
• Engelmann's Disease see Camurati-Engelmann disease
• enlarged parietal foramina
• Epiphyseal dysplasia, Fairbank type see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, multiple, 1 see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, multiple, 2 see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, multiple, 3 see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, multiple, 4 see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, multiple, 5 see multiple epiphyseal dysplasia
• Epiphyseal dysplasia, Ribbing type see multiple epiphyseal dysplasia
• Escobar syndrome see multiple pterygium syndrome
• Eulenburg Disease see paramyotonia congenita
• Ewing sarcoma
• exercise-induced myopathy see adenosine monophosphate deaminase deficiency
• exostoses, multiple hereditary see hereditary multiple exostoses
• FA see Friedreich ataxia
• facial dysmorphism-intellectual deficit-short stature-hearing loss see Myhre syndrome
• Facio-digito-genital dysplasia see Aarskog-Scott syndrome
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• Facio-Scapulo-Humeral Dystrophy see facioscapulohumeral muscular dystrophy
• facioauriculovertebral dysplasia see craniofacial microsomia
• Faciogenital dysplasia see Aarskog-Scott syndrome
• faciopalatoosseous syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• facioscapulohumeral muscular dystrophy
• Facioscapuloperoneal muscular dystrophy see facioscapulohumeral muscular dystrophy
• Familial benign giant-cell tumor of the jaw see cherubism
• familial brachial plexus neuritis see hereditary neuralgic amyotrophy
• familial cold autoinflammatory syndrome
• familial cystic parathyroid adenomatosis see hyperparathyroidism-jaw tumor syndrome
• familial exostoses see hereditary multiple exostoses
• Familial fibrous dysplasia of jaw see cherubism
• familial granulomatosis, Blau type see Blau syndrome
• familial horizontal gaze palsy with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• Familial Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
• Familial Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
• familial idiopathic hyperphosphatasemia see juvenile Paget disease
• familial idiopathic scoliosis associated with congenital encephalopathy see horizontal gaze palsy with progressive scoliosis
• familial infantile scoliosis associated with bilateral paralysis of conjugate gaze see horizontal gaze palsy with progressive scoliosis
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• familial juvenile systemic granulomatosis see Blau syndrome
• Familial multilocular cystic disease of the jaws see cherubism
• familial osteochondritis dissecans
• familial osteoectasia see juvenile Paget disease
• familial primary hyperparathyroidism with multiple ossifying jaw fibromas see hyperparathyroidism-jaw tumor syndrome
• familial progressive scleroderma see systemic scleroderma
• familial pterygium syndrome see multiple pterygium syndrome
• familial Turner syndrome see Noonan syndrome
• Farber lipogranulomatosis
• FAV see craniofacial microsomia
• FCAS see familial cold autoinflammatory syndrome
• FCMD see Fukuyama congenital muscular dystrophy
• FCU see familial cold autoinflammatory syndrome
• Feingold syndrome
• Female Pseudo-Turner Syndrome see Noonan syndrome
• Fetal face syndrome see Robinow syndrome
• FGFR3-associated coronal synostosis see Muenke syndrome
• FHS see Floating-Harbor syndrome
• fibrodysplasia ossificans progressiva
• Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
• Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
• first and second branchial arch syndrome see craniofacial microsomia
• first and second pharyngeal arch syndromes see craniofacial microsomia
• FIVE see ataxia with vitamin E deficiency
• FLHS see Floating-Harbor syndrome
• Floating-Harbor syndrome
• focal dermal hypoplasia
• focal hand dystonia see task-specific focal dystonia
• focal task-specific dystonia see task-specific focal dystonia
• fOCD see familial osteochondritis dissecans
• Fong disease see nail-patella syndrome
• foramina parietalia permagna see enlarged parietal foramina
• Forbes disease see glycogen storage disease type III
• FPO see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• FPP see enlarged parietal foramina
• fra(X) syndrome see fragile X syndrome
• fragile X syndrome
• Fragilitas ossium see osteogenesis imperfecta
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• FRAXA syndrome see fragile X syndrome
• FRDA see Friedreich ataxia
• Freeman-Sheldon syndrome
• Friedreich ataxia
• Friedreich ataxia phenotype with selective vitamin E deficiency see ataxia with vitamin E deficiency
• Friedreich-like ataxia see ataxia with vitamin E deficiency
• frontometaphyseal dysplasia
• Fryns syndrome
• FSH muscular dystrophy see facioscapulohumeral muscular dystrophy
• FSHD see facioscapulohumeral muscular dystrophy
• FSS see Freeman-Sheldon syndrome
• FTSD see task-specific focal dystonia
• Fukuhara Disease see myoclonic epilepsy with ragged-red fibers
• Fukuyama congenital muscular dystrophy
• FXS see fragile X syndrome
• GAA deficiency see Pompe disease
• Gamstorp disease see hyperkalemic periodic paralysis
• Gamstorp episodic adynamy see hyperkalemic periodic paralysis
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• gaze palsy, familial horizontal, with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• geleophysic dysplasia
• Genee-Wiedemann acrofacial dysostosis see Miller syndrome
• Genee-Wiedemann syndrome see Miller syndrome
• general fibrosis syndrome see congenital fibrosis of the extraocular muscles
• genitopatellar syndrome
• giant cell chondrodysplasia see atelosteogenesis type 1
• Giedion-Langer Syndrome see Langer-Giedion syndrome
• glycogen storage disease type 2B see Danon disease
• glycogen storage disease type II see Pompe disease
• glycogen storage disease type IIb see Danon disease
• glycogen storage disease type III
• glycogen storage disease type IX
• glycogen storage disease type V
• glycogen storage disease X see phosphoglycerate mutase deficiency
• glycogenosis Type II see Pompe disease
• Goldenhar-Gorlin syndrome see craniofacial microsomia
• Goldenhar syndrome see craniofacial microsomia
• Goltz-Gorlin syndrome see focal dermal hypoplasia
• Goltz Syndrome see focal dermal hypoplasia
• gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
• GPS see genitopatellar syndrome
• granulomatous inflammatory arthritis, dermatitis, and uveitis, familial see Blau syndrome
• Greenberg dysplasia
• Greig cephalopolysyndactyly syndrome
• GSD II see Pompe disease
• GSD III see glycogen storage disease type III
• GSD IX see glycogen storage disease type IX
• GSD type V see glycogen storage disease type V
• GSD V see glycogen storage disease type V
• GSD X see phosphoglycerate mutase deficiency
• GSD2 see Pompe disease
• GSD3 see glycogen storage disease type III
• GSD10 see phosphoglycerate mutase deficiency
• GSDIX see glycogen storage disease type IX
• GSDX see phosphoglycerate mutase deficiency
• GUSB deficiency see mucopolysaccharidosis type VII
• Hall-Pallister syndrome see Pallister-Hall syndrome
• HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• hand-foot-genital syndrome
• Hand-foot-uterus syndrome see hand-foot-genital syndrome
• Happle syndrome see X-linked chondrodysplasia punctata 2
• Hay-Wells syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• HCH see hypochondroplasia
• Heart-hand syndrome, type 1 see Holt-Oram syndrome
• HEM dysplasia see Greenberg dysplasia
• HEM skeletal dysplasia see Greenberg dysplasia
• hemangiomata with dyschondroplasia see Maffucci syndrome
• hemangiomatosis chondrodystrophica see Maffucci syndrome
• hemangiomatous branchial clefts-lip pseudocleft syndrome see branchio-oculo-facial syndrome
• hemifacial microsomia see craniofacial microsomia
• hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
• hereditary arthro-ophthalmopathy see Stickler syndrome
• Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
• hereditary hyperparathyroidism-jaw tumor syndrome see hyperparathyroidism-jaw tumor syndrome
• hereditary hypophosphatemic rickets
• Hereditary inclusion body myopathy see inclusion body myopathy 2
• hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
• hereditary motor neuronopathy see spinal muscular atrophy
• hereditary multiple exostoses
• hereditary myopathy with early respiratory failure
• hereditary myopathy with lactic acidosis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
• hereditary neuralgic amyotrophy
• hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
• Hereditary onycho-osteodysplasia see nail-patella syndrome
• Hereditary Osteo-Onychodysplasias see nail-patella syndrome
• hereditary sensory and autonomic neuropathy, type 4 see congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy type II
• hereditary sensory and autonomic neuropathy type IV see congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy type V
• Hereditary Spastic Paraplegia
• Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
• heredofamilial neuritis with brachial plexus predilection see hereditary neuralgic amyotrophy
• Heterotopic Ossification see progressive osseous heteroplasia
• Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
• Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
• HFG syndrome see hand-foot-genital syndrome
• HFGS see hand-foot-genital syndrome
• HFM see craniofacial microsomia
• HFTC see hyperphosphatemic familial tumoral calcinosis
• HFU syndrome see hand-foot-genital syndrome
• HGPPS see horizontal gaze palsy with progressive scoliosis
• HGPRT deficiency see Lesch-Nyhan syndrome
• HGPS see Hutchinson-Gilford progeria syndrome
• HIBM see inclusion body myopathy 2
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HMERF see hereditary myopathy with early respiratory failure
• HML see myopathy with deficiency of iron-sulfur cluster assembly enzyme
• HMN V see distal hereditary motor neuropathy, type V
• HMN6 see spinal muscular atrophy with respiratory distress type 1
• HMNVI see spinal muscular atrophy with respiratory distress type 1
• HMSN see Charcot-Marie-Tooth disease
• HNA see hereditary neuralgic amyotrophy
• HOKPP see hypokalemic periodic paralysis
• Holt-Oram syndrome
• Homogentisic acid oxidase deficiency see alkaptonuria
• Homogentisic acidura see alkaptonuria
• horizontal gaze palsy with progressive scoliosis
• HOS see Holt-Oram syndrome
• HPT-JT see hyperparathyroidism-jaw tumor syndrome
• HSAN type II see hereditary sensory and autonomic neuropathy type II
• HSAN type IV see congenital insensitivity to pain with anhidrosis
• HSAN type V see hereditary sensory and autonomic neuropathy type V
• HSAN V see hereditary sensory and autonomic neuropathy type V
• HSAN2 see hereditary sensory and autonomic neuropathy type II
• HSAN4 see congenital insensitivity to pain with anhidrosis
• HSAN5 see hereditary sensory and autonomic neuropathy type V
• HSANII see hereditary sensory and autonomic neuropathy type II
• HSN type II see hereditary sensory and autonomic neuropathy type II
• humero-spinal dysostosis see CHST3-related skeletal dysplasia
• Hutchinson-Gilford progeria syndrome
• hydrops - ectopic calcification - moth-eaten skeletal dysplasia see Greenberg dysplasia
• Hyper-IgE Syndrome see Job syndrome
• Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• hyperkalemic periodic paralysis
• HyperKPP see hyperkalemic periodic paralysis
• hyperostosis corticalis deformans juvenilis see juvenile Paget disease
• hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
• hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
• hyperparathyroidism-jaw tumor syndrome
• hyperphosphatasemia tarda see SOST-related sclerosing bone dysplasia
• hyperphosphatasemia with bone disease see juvenile Paget disease
• hyperphosphatasia, familial idiopathic see juvenile Paget disease
• hyperphosphatemia hyperostosis see hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemia tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemic familial tumoral calcinosis
• HyperPP see hyperkalemic periodic paralysis
• Hyperpyrexia, Malignant see malignant hyperthermia
• Hyperthermia, Malignant see malignant hyperthermia
• hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome see Cantú syndrome
• hypertrichotic osteochondrodysplasia see Cantú syndrome
• Hypochondrodysplasia see hypochondroplasia
• hypochondrogenesis
• hypochondroplasia
• hypokalemic periodic paralysis
• HypoKPP see hypokalemic periodic paralysis
• Hypomelia hypotrichosis facial hemangioma syndrome see Roberts syndrome
• hypophosphatasia
• hypophosphatemia see hereditary hypophosphatemic rickets
• HypoPP see hypokalemic periodic paralysis
• hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
• hypoxanthine guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• hypoxanthine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• I-Cell Disease see mucolipidosis II alpha/beta
• IBIDS see trichothiodystrophy
• IBM2 see inclusion body myopathy 2
• IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• idic(15) see isodicentric chromosome 15 syndrome
• idiopathic hyperphosphatasia see juvenile Paget disease
• idiopathic inflammatory myopathy
• idiopathic juvenile osteoporosis see juvenile primary osteoporosis
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
• inclusion body myopathy 2
• inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Inclusion Cell Disease see mucolipidosis II alpha/beta
• Infantile hypercalcemia see Williams syndrome
• infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
• infantile subacute necrotizing encephalopathy see Leigh syndrome
• infantile systemic hyalinosis
• infantile thoracic dystrophy see asphyxiating thoracic dystrophy
• inflammatory myopathy, idiopathic see idiopathic inflammatory myopathy
• inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
• Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
• interstitial deletion of chromosome 15q24 see 15q24 microdeletion
• intranuclear rod myopathy
• inv dup(15) see isodicentric chromosome 15 syndrome
• inverted duplication 15 see isodicentric chromosome 15 syndrome
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• iron-sulfur cluster deficiency myopathy see myopathy with deficiency of iron-sulfur cluster assembly enzyme
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• 18p isochromosome see tetrasomy 18p
• isodicentric chromosome 15 syndrome
• Jackson-Weiss syndrome
• Jacobsen syndrome
• Jarcho-Levin syndrome see spondylocostal dysostosis; spondylothoracic dysostosis
• Jeune syndrome see asphyxiating thoracic dystrophy
• Jeune thoracic dysplasia see asphyxiating thoracic dystrophy
• Jeune thoracic dystrophy see asphyxiating thoracic dystrophy
• JIA see juvenile idiopathic arthritis
• Job syndrome
• JPD see juvenile Paget disease
• JRA see juvenile idiopathic arthritis
• juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
• juvenile hyaline fibromatosis
• juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
• juvenile idiopathic arthritis
• juvenile Paget disease
• juvenile primary osteoporosis
• juvenile subacute necrotizing encephalopathy see Leigh syndrome
• JWS see Jackson-Weiss syndrome
• Kabuki syndrome
• Kast syndrome see Maffucci syndrome
• KD see spinal and bulbar muscular atrophy
• Kearns-Sayre syndrome
• Kennedy disease see spinal and bulbar muscular atrophy
• Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
• KFS see Klippel-Feil syndrome
• Klippel-Feil syndrome
• Klippel-Trenaunay syndrome
• KMS see Kabuki syndrome
• Kniest dysplasia
• Knobloch syndrome
• Krause-Kivlin syndrome see Peters plus syndrome
• Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
• KSS see Kearns-Sayre syndrome
• KTS see Klippel-Trenaunay syndrome
• KTW syndrome see Klippel-Trenaunay syndrome
• L1 syndrome
• lactate dehydrogenase deficiency
• Laing distal myopathy
• Landouzy-Dejerine Dystrophy see facioscapulohumeral muscular dystrophy
• Langer-Giedion syndrome
• Langer mesomelic dysplasia
• LAPS syndrome see Myhre syndrome
• Larsen syndrome
• laryngotracheal stenosis, arthropathy, prognathism, and short stature see Myhre syndrome
• Late-onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
• lateral facial dysplasia see craniofacial microsomia
• LDH deficiency see lactate dehydrogenase deficiency
• Le Merrer syndrome see 3-M syndrome
• Leigh syndrome
• Leisti-Hollander-Rimoin syndrome see Floating-Harbor syndrome
• Lenz microphthalmia syndrome
• Léri-Weill dyschondrosteosis
• Lesch-Nyhan syndrome
• LFS see Lujan syndrome
• LGMD see limb-girdle muscular dystrophy
• limb-girdle muscular dystrophy
• limit dextrinosis see glycogen storage disease type III
• lip pseudocleft-hemagiomatous branchial cyst syndrome see branchio-oculo-facial syndrome
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-CoA dehydrogenase deficiency
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• lipomatosis dolorosa see adiposis dolorosa
• LMD see Langer mesomelic dysplasia
• LND see Lesch-Nyhan syndrome
• LNS see Lesch-Nyhan syndrome
• Loeys-Dietz syndrome
• Long QT syndrome 7 see Andersen-Tawil syndrome
• Long QT syndrome with syndactyly see Timothy syndrome
• Lou Gehrig disease see amyotrophic lateral sclerosis
• Lower motor neuron degeneration with Paget-like bone disease see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• LQT7 see Andersen-Tawil syndrome
• LQT8 see Timothy syndrome
• LRS see Larsen syndrome
• Lubag see X-linked dystonia-parkinsonism
• Lujan syndrome
• LWD see Léri-Weill dyschondrosteosis
• lysosomal glycogen storage disease with normal acid maltase see Danon disease
• 3-M syndrome
• 3MGA see 3-methylglutaconic aciduria
• MAA see Lenz microphthalmia syndrome
• MAD deficiency see adenosine monophosphate deaminase deficiency
• MADA deficiency see adenosine monophosphate deaminase deficiency
• Maffucci syndrome
• Majeed syndrome
• Majewski osteodysplastic primordial dwarfism type II see microcephalic osteodysplastic primordial dwarfism type II
• Male Turner Syndrome see Noonan syndrome
• malignant hyperthermia
• mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
• marble bone disease see osteopetrosis
• Marchesani syndrome see Weill-Marchesani syndrome
• Marfan syndrome
• Marie-Sainton syndrome see cleidocranial dysplasia
• Marie-Struempell Disease see ankylosing spondylitis
• Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
• Marinesco-Sjögren syndrome
• marker X syndrome see fragile X syndrome
• Maroteaux-Lamy Syndrome see mucopolysaccharidosis type VI
• Martin-Bell syndrome see fragile X syndrome
• MAS see McCune-Albright syndrome
• MASA syndrome see L1 syndrome
• matrin 3 distal myopathy see distal myopathy 2
• McAlister dysplasia see atelosteogenesis type 2
• McArdle disease see glycogen storage disease type V
• McArdle syndrome see glycogen storage disease type V
• McArdle type glycogen storage disease see glycogen storage disease type V
• McCune-Albright syndrome
• MCHS see childhood myocerebrohepatopathy spectrum
• McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
• MCOPS1 see Lenz microphthalmia syndrome
• MED see multiple epiphyseal dysplasia
• Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
• MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Melnick-Needles syndrome
• MEMSA see myoclonic epilepsy myopathy sensory ataxia
• mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
• Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
• MERRF see myoclonic epilepsy with ragged-red fibers
• mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type see Langer mesomelic dysplasia
• mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
• Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
• metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
• Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
• Metatropic dwarfism, type II see Kniest dysplasia
• metatropic dysplasia
• Metatropic dysplasia type II see Kniest dysplasia
• 3-methylglutaconic aciduria
• MFS see Marfan syndrome
• MHS - Malignant hyperthermia see malignant hyperthermia
• microcephalic osteodysplastic primordial dwarfism type II
• microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome see Feingold syndrome
• microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome see Feingold syndrome
• 15q24 microdeletion
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
• Miller syndrome
• Minicore disease see multiminicore disease
• Minicore myopathy see multiminicore disease
• MIRAS see ataxia neuropathy spectrum
• mitochondrial complex IV deficiency see cytochrome c oxidase deficiency
• mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see succinate-CoA ligase deficiency
• mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see succinate-CoA ligase deficiency
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial recessive ataxia syndrome see ataxia neuropathy spectrum
• ML III see mucolipidosis III alpha/beta
• ML IIIC see mucolipidosis III gamma
• MLII see mucolipidosis II alpha/beta
• MmD see multiminicore disease
• MNS see Melnick-Needles syndrome
• Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
• molluscum fibrosum see juvenile hyaline fibromatosis
• monosomy 4p see Wolf-Hirschhorn syndrome
• 17p11.2 monosomy see Smith-Magenis syndrome
• MOPD2 see microcephalic osteodysplastic primordial dwarfism type II
• MOPDII see microcephalic osteodysplastic primordial dwarfism type II
• morbus Dercum see adiposis dolorosa
• Morquio-Brailsford disease see mucopolysaccharidosis type IV
• Morquio Disease see mucopolysaccharidosis type IV
• Morquio Syndrome see mucopolysaccharidosis type IV
• Morvan disease see hereditary sensory and autonomic neuropathy type II
• moth-eaten skeletal dysplasia see Greenberg dysplasia
• motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
• MPD1 see Laing distal myopathy
• MPD2 see distal myopathy 2
• MPRM see hereditary myopathy with early respiratory failure
• MPS IV see mucopolysaccharidosis type IV
• MPS VI see mucopolysaccharidosis type VI
• MPS VII see mucopolysaccharidosis type VII
• MPS6 see mucopolysaccharidosis type VI
• MPS7 see mucopolysaccharidosis type VII
• 3-MSBN see 3-M syndrome
• MSS see Marinesco-Sjögren syndrome
• MTMX see X-linked myotubular myopathy
• Muckle-Wells syndrome
• mucolipidosis I see sialidosis
• mucolipidosis II alpha/beta
• mucolipidosis III alpha/beta
• mucolipidosis III gamma
• mucolipidosis type I see sialidosis
• mucopolysaccharidosis type IV
• mucopolysaccharidosis type VI
• mucopolysaccharidosis type VII
• Muenke syndrome
• Multi-minicore disease see multiminicore disease
• Multicore disease see multiminicore disease
• Multicore myopathy see multiminicore disease
• multiminicore disease
• multiple angiomas and endochondromas see Maffucci syndrome
• multiple cartilaginous exostoses see hereditary multiple exostoses
• multiple epiphyseal dysplasia
• multiple hereditary exostoses see hereditary multiple exostoses
• multiple osteochondromas see hereditary multiple exostoses
• multiple osteochondromatosis see hereditary multiple exostoses
• multiple pterygium syndrome
• Murray syndrome see juvenile hyaline fibromatosis
• muscle glycogen phosphorylase deficiency see glycogen storage disease type V
• Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
• muscle phosphorylase deficiency see glycogen storage disease type V
• Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
• muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy
• Muscular Dystrophy, Emery-Dreifuss see Emery-Dreifuss muscular dystrophy
• Muscular Dystrophy, Facioscapulohumeral see facioscapulohumeral muscular dystrophy
• Muscular Dystrophy, Landouzy Dejerine see facioscapulohumeral muscular dystrophy
• Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
• muscular dystrophy, pseudohypertrophic see Duchenne and Becker muscular dystrophy
• MWS see Muckle-Wells syndrome
• Myhre-Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Myhre syndrome
• myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
• myoclonic epilepsy myopathy sensory ataxia
• myoclonic epilepsy with ragged-red fibers
• myoclonus cherry red spot syndrome see sialidosis
• Myoencephalopathy ragged-red fiber disease see myoclonic epilepsy with ragged-red fibers
• myofibrillar myopathy
• myoglobinuria due to abnormal glycolysis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myopathia distalis type 2 see distal myopathy 2
• myopathic limb-girdle syndrome see limb-girdle muscular dystrophy
• myopathies, nemaline see nemaline myopathy
• Myopathy, Central Core see central core disease
• myopathy due to phosphoglycerate mutase deficiency see phosphoglycerate mutase deficiency
• Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• myopathy, nemaline see nemaline myopathy
• myopathy, proximal, with early respiratory muscle involvement see hereditary myopathy with early respiratory failure
• myopathy with deficiency of iron-sulfur cluster assembly enzyme
• myophosphorylase deficiency see glycogen storage disease type V
• Myositis Ossificans see fibrodysplasia ossificans progressiva
• myostatin-related muscle hypertrophy
• myotonia atrophica see myotonic dystrophy
• myotonia congenita
• myotonia dystrophica see myotonic dystrophy
• myotonic dystrophy
• myotubular myopathy see centronuclear myopathy
• NAFD see Nager syndrome
• Nager syndrome
• nail-patella syndrome
• Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
• NAPB see hereditary neuralgic amyotrophy
• Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• nemaline myopathy
• nemaline myopathy with exclusively intranuclear rods see intranuclear rod myopathy
• neonatal onset multisystem inflammatory disease
• Neonatal osseous dysplasia 1 see atelosteogenesis type 2
• Neuralgic Amyotrophy see hereditary neuralgic amyotrophy
• neuritis with brachial predilection see hereditary neuralgic amyotrophy
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• neutral lipid storage disease with myopathy
• NHD see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Niemann-Pick disease
• Niikawa-Kuroki syndrome see Kabuki syndrome
• NLSDM see neutral lipid storage disease with myopathy
• Noack syndrome see Pfeiffer syndrome
• NOG-related-symphalangism spectrum disorder see tarsal-carpal coalition syndrome
• NOMID see neonatal onset multisystem inflammatory disease
• non-distal tetrasomy 15q see isodicentric chromosome 15 syndrome
• Nonaka myopathy see inclusion body myopathy 2
• Noonan syndrome
• NPD see Niemann-Pick disease
• OAV complex see craniofacial microsomia
• OAVS see craniofacial microsomia
• occupational cramp see task-specific focal dystonia
• occupational dystonia see task-specific focal dystonia
• OCD see familial osteochondritis dissecans
• oculo-dento-digital dysplasia see oculodentodigital dysplasia
• oculo-dento-osseous dysplasia see oculodentodigital dysplasia
• oculo-digito-esophagoduodental (ODED) syndrome see Feingold syndrome
• oculoauriculovertebral spectrum see craniofacial microsomia
• oculodentodigital dysplasia
• oculodentoosseous dysplasia see oculodentodigital dysplasia
• oculopharyngeal muscular dystrophy
• OD see familial osteochondritis dissecans
• ODD syndrome see oculodentodigital dysplasia
• ODDD see oculodentodigital dysplasia
• ODOD see oculodentodigital dysplasia
• OFDS see oral-facial-digital syndrome
• Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• OI see osteogenesis imperfecta
• Okihiro syndrome see Duane-radial ray syndrome
• OPD syndrome, type 1 see otopalatodigital syndrome type 1
• OPD syndrome, type 2 see otopalatodigital syndrome type 2
• ophthalmoplegia, progressive external, and scoliosis see horizontal gaze palsy with progressive scoliosis
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• OPMD see oculopharyngeal muscular dystrophy
• Oppenheim dystonia see early-onset primary dystonia
• OPPG see osteoporosis-pseudoglioma syndrome
• oral-facial-digital syndrome
• oral-mandibular-auricular syndrome see craniofacial microsomia
• oro-facio-digital syndrome see oral-facial-digital syndrome
• orodigitofacial dysostosis see oral-facial-digital syndrome
• orodigitofacial syndrome see oral-facial-digital syndrome
• orofaciodigital syndrome see oral-facial-digital syndrome
• OSMED see otospondylomegaepiphyseal dysplasia
• osseous-oculo-dental dysplasia see oculodentodigital dysplasia
• osseous Paget's disease see Paget disease of bone
• osteitis deformans see Paget disease of bone
• osteitis fibrosa disseminata see McCune-Albright syndrome
• osteochalasia desmalis familiaris see juvenile Paget disease
• osteochondritis dissecans, short stature, and early-onset osteoarthritis see familial osteochondritis dissecans
• Osteodermia see progressive osseous heteroplasia
• osteodysplastic primordial dwarfism type II see microcephalic osteodysplastic primordial dwarfism type II
• osteodysplasty of Melnick and Needles see Melnick-Needles syndrome
• osteoectasia with hyperphosphatasia see juvenile Paget disease
• osteogenesis imperfecta
• osteogenesis imperfecta, ocular form see osteoporosis-pseudoglioma syndrome
• Osteoma cutis see progressive osseous heteroplasia
• osteopetroses see osteopetrosis
• osteopetrosis
• osteoporosis-pseudoglioma syndrome
• Osteosis cutis see progressive osseous heteroplasia
• Osterreicher Syndrome see nail-patella syndrome
• Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
• otomandibular dysostosis see craniofacial microsomia
• otopalatodigital syndrome type 1
• otopalatodigital syndrome type 2
• otospondylomegaepiphyseal dysplasia
• P11pDS see Potocki-Shaffer syndrome
• Paget disease of bone
• Pagetoid amyotrophic lateral sclerosis see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• Pallister-Hall syndrome
• Pallister-Killian mosaic syndrome
• PAM see potassium-aggravated myotonia
• Paralysis periodica paramyotonia see paramyotonia congenita
• paramyotonia congenita
• Parkes Weber syndrome
• partial monosomy 4p see Wolf-Hirschhorn syndrome
• partial monosomy 17p see Smith-Magenis syndrome
• Patau syndrome see trisomy 13
• Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome
• PDB see Paget disease of bone
• PDD see Camurati-Engelmann disease
• pediatric granulomatous arthritis see Blau syndrome
• Pelizaeus-Merzbacher disease
• Pelletier-Leisti syndrome see Floating-Harbor syndrome
• Pelvic Horn Syndrome see nail-patella syndrome
• PEO see progressive external ophthalmoplegia
• Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
• peroneal muscular atrophy see Charcot-Marie-Tooth disease
• Peters plus syndrome
• PFD see McCune-Albright syndrome
• Pfeiffer syndrome
• PFM see enlarged parietal foramina
• PGAM deficiency see phosphoglycerate mutase deficiency
• PGAMM deficiency see phosphoglycerate mutase deficiency
• PGK deficiency see phosphoglycerate kinase deficiency
• PGK1 deficiency see phosphoglycerate kinase deficiency
• PhK deficiency see glycogen storage disease type IX
• Phosphoethanolaminuria see hypophosphatasia
• phosphoglycerate kinase deficiency
• phosphoglycerate mutase deficiency
• phosphoribosylpyrophosphate synthetase superactivity
• phosphorylase b kinase deficiency see glycogen storage disease type IX
• phosphorylase kinase deficiency see glycogen storage disease type IX
• PHS see Pallister-Hall syndrome
• PIBIDS see trichothiodystrophy
• Piepkorn dysplasia see boomerang dysplasia
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
• PKS see Pallister-Killian mosaic syndrome
• PKWS see Parkes Weber syndrome
• platyspondylic lethal skeletal dysplasia, Torrance type
• PLO-SL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• PLOSL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
• PMA see Charcot-Marie-Tooth disease
• PMC see paramyotonia congenita
• PMD see Pelizaeus-Merzbacher disease
• POFD see McCune-Albright syndrome
• POH see progressive osseous heteroplasia
• Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
• Poikiloderma Congenitale see Rothmund-Thomson Syndrome
• polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Polydystrophic Dwarfism see mucopolysaccharidosis type VI
• Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
• Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
• Pompe disease
• popliteal pterygium syndrome
• POR Deficiency see cytochrome P450 oxidoreductase deficiency
• PORD see cytochrome P450 oxidoreductase deficiency
• postaxial acrofacial dysostosis (POADS) see Miller syndrome
• potassium-aggravated myotonia
• Potocki-Shaffer syndrome
• PPS see popliteal pterygium syndrome
• Prader-Labhart-Willi syndrome see Prader-Willi syndrome
• Prader-Willi syndrome
• preaxial acrofacial dysostosis see Nager syndrome
• preaxial mandibulofacial dysostosis see Nager syndrome
• Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
• primary carnitine deficiency
• Primary Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
• primary hyperphosphatemic tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
• primary hyperuricemia syndrome see Lesch-Nyhan syndrome
• Primary Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
• Primary torsion dystonia see early-onset primary dystonia
• Progeria see Hutchinson-Gilford progeria syndrome
• progeria-like syndrome see Cockayne syndrome
• progeroid nanism see Cockayne syndrome
• progressive external ophthalmoplegia
• progressive muscular atrophy see spinal muscular atrophy
• Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
• Progressive myositis ossificans see fibrodysplasia ossificans progressiva
• progressive osseous heteroplasia
• progressive ossifying myositis see fibrodysplasia ossificans progressiva
• progressive pseudorheumatoid dysplasia with hypoplastic toes see Czech dysplasia
• progressive scleroderma see systemic scleroderma
• Proteus syndrome
• proximal 11p deletion syndrome see Potocki-Shaffer syndrome
• PRPP synthetase overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPP synthetase superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPS1 superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PS see Proteus syndrome
• PSACH see pseudoachondroplasia
• Pseudo-Hurler Polydystrophy see mucolipidosis III alpha/beta; mucolipidosis III gamma
• pseudo-Ullrich-Turner syndrome see Noonan syndrome
• pseudoachondroplasia
• pseudoachondroplastic dysplasia see pseudoachondroplasia
• pseudoachondroplastic spondyloepiphyseal dysplasia syndrome see pseudoachondroplasia
• Pseudothalidomide syndrome see Roberts syndrome
• psoriatic arthritis
• pterygium syndrome see multiple pterygium syndrome
• Puretic syndrome see juvenile hyaline fibromatosis
• PWS see Prader-Willi syndrome
• PYGM deficiency see glycogen storage disease type V
• QSM see inclusion body myopathy 2
• question-mark ear syndrome see auriculo-condylar syndrome
• radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome
• radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome
• RBS see Roberts syndrome
• RCDP see rhizomelic chondrodysplasia punctata
• RCP see rhizomelic chondrodysplasia punctata
• renal carnitine transport defect see primary carnitine deficiency
• renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
• retinal detachment and occipital encephalocele see Knobloch syndrome
• rhizomelic chondrodysplasia punctata
• Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Rimmed vacuole myopathy see inclusion body myopathy 2
• rMED see multiple epiphyseal dysplasia
• Roberts syndrome
• Robinow syndrome
• rod body disease see nemaline myopathy
• rod-body myopathy see nemaline myopathy
• rod myopathy see nemaline myopathy
• Rothmund-Thomson Syndrome
• RSH Syndrome see Smith-Lemli-Opitz syndrome
• RSS see Russell-Silver syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
• Rubinstein-Taybi syndrome
• Russell-Silver syndrome
• Ruvalcaba-Myhre-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Ruvalcaba-Myhre syndrome see Bannayan-Riley-Ruvalcaba syndrome
• SADDAN
• Saethre-Chotzen syndrome
• Salih myopathy
• SANDO see ataxia neuropathy spectrum
• Say-Barber-Biesecker-Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYS variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYSS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBMA see spinal and bulbar muscular atrophy
• SC phocomelia syndrome see Roberts syndrome
• SC pseudothalidomide syndrome see Roberts syndrome
• SC syndrome see Roberts syndrome
• SCAD deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCADH deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCAE see myoclonic epilepsy myopathy sensory ataxia
• SCAN2 see ataxia with oculomotor apraxia
• SCAR1 see ataxia with oculomotor apraxia
• SCDO see spondylocostal dysostosis
• Schilder-Addison Complex see X-linked adrenoleukodystrophy
• Schimke immuno-osseous dysplasia
• Schinzel-Giedion syndrome
• sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
• sclerosteosis see SOST-related sclerosing bone dysplasia
• SCS see Saethre-Chotzen syndrome
• SCT see spondylocarpotarsal synostosis syndrome
• SDS see Shwachman-Diamond syndrome
• SDYS see Simpson-Golabi-Behmel syndrome
• SED congenita see spondyloepiphyseal dysplasia congenita
• SED, Omani type see CHST3-related skeletal dysplasia
• SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
• SED tarda see X-linked spondyloepiphyseal dysplasia tarda
• SED with luxations, CHST3 type see CHST3-related skeletal dysplasia
• SEDc see spondyloepiphyseal dysplasia congenita
• Sedlackova syndrome see 22q11.2 deletion syndrome
• SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
• sensory ataxia neuropathy dysarthria and ophthalmoplegia see ataxia neuropathy spectrum
• Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
• severe infantile axonal neuropathy with respiratory failure see spinal muscular atrophy with respiratory distress type 1
• SGBS see Simpson-Golabi-Behmel syndrome
• short-chain acyl-CoA dehydrogenase deficiency
• Shoulder Girdle Neuropathy see hereditary neuralgic amyotrophy
• Shprintzen syndrome see 22q11.2 deletion syndrome
• Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
• Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
• Shwachman-Diamond syndrome
• Shwachman syndrome see Shwachman-Diamond syndrome
• Shy-Magee Syndrome see central core disease
• sialidosis
• SIANRF see spinal muscular atrophy with respiratory distress type 1
• Silver-Russell Dwarfism see Russell-Silver syndrome
• Silver-Russell syndrome see Russell-Silver syndrome
• Silver syndrome
• Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• Simpson syndrome see Simpson-Golabi-Behmel syndrome
• SIOD see Schimke immuno-osseous dysplasia
• Skeleton-skin-brain syndrome see SADDAN
• SLO syndrome see Smith-Lemli-Opitz syndrome
• SLOS see Smith-Lemli-Opitz syndrome
• Sly Syndrome see mucopolysaccharidosis type VII
• SMA see spinal muscular atrophy
• SMARD1 see spinal muscular atrophy with respiratory distress type 1
• SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• SMS see Smith-Magenis syndrome
• sodium channel myotonia see potassium-aggravated myotonia
• Sohar-Crisponi syndrome see cold-induced sweating syndrome
• SOST-related sclerosing bone dysplasia
• SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
• spastic ataxia, Charlevoix-Saguenay type see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic ataxia of Charlevoix-Saguenay see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
• spastic paraplegia 17 see Silver syndrome
• spastic paraplegia 20, autosomal recessive see Troyer syndrome
• spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
• spastic paraplegia type 2
• spastic paraplegia type 3A
• spastic paraplegia type 4
• spastic paraplegia type 7
• spastic paraplegia with amyotrophy of hands and feet see Silver syndrome
• SPD see spondyloperipheral dysplasia
• SPG1 see L1 syndrome
• SPG3A see spastic paraplegia type 3A
• SPG17 see Silver syndrome
• SPG20 see Troyer syndrome
• Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
• Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• Sphingomyelin lipidosis see Niemann-Pick disease
• Sphingomyelinase deficiency see Niemann-Pick disease
• spinal and bulbar muscular atrophy
• spinal muscular atrophy
• spinal muscular atrophy, distal type V see distal hereditary motor neuropathy, type V
• spinal muscular atrophy, distal, with upper limb predominance see distal hereditary motor neuropathy, type V
• spinal muscular atrophy with respiratory distress type 1
• spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with epilepsy see myoclonic epilepsy myopathy sensory ataxia
• Spondylarthritis Ankylopoietica see ankylosing spondylitis
• Spondylitis ankylopoietica see ankylosing spondylitis
• Spondylitis, Ankylosing see ankylosing spondylitis
• Spondyloarthritis Ankylopoietica see ankylosing spondylitis
• spondyloarthropathy with short third and fourth toes see Czech dysplasia
• spondylocarpotarsal synostosis syndrome
• spondylocostal dysostosis
• spondyloepimetaphyseal dysplasia, Strudwick type
• Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda
• spondyloepiphyseal dysplasia congenita
• spondyloepiphyseal dysplasia, Omani type see CHST3-related skeletal dysplasia
• spondyloepiphyseal dysplasia with congenital joint dislocations see CHST3-related skeletal dysplasia
• spondylohumerofemoral hypoplasia see atelosteogenesis type 1
• Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloperipheral dysplasia
• spondylothoracic dysostosis
• SRS see Russell-Silver syndrome
• SSB syndrome see SADDAN
• STD see spondylothoracic dysostosis
• Stickler syndrome
• Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• subacute necrotizing encephalomyelopathy see Leigh syndrome
• succinate-CoA ligase deficiency
• succinate-coenzyme A ligase deficiency see succinate-CoA ligase deficiency
• Supravalvar aortic stenosis syndrome see Williams syndrome
• Swiss cheese cartilage dysplasia see Kniest dysplasia
• 4p- syndrome see Wolf-Hirschhorn syndrome
• 17p- syndrome see Smith-Magenis syndrome
• systemic carnitine deficiency see primary carnitine deficiency
• Systemic hyalinosis see juvenile hyaline fibromatosis
• systemic scleroderma
• TAR syndrome see thrombocytopenia-absent radius syndrome
• tardive tibial muscular dystrophy see tibial muscular dystrophy
• tarsal-carpal coalition syndrome
• task-specific focal dystonia
• Taybi syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• TCC see tarsal-carpal coalition syndrome
• 11q terminal deletion disorder see Jacobsen syndrome
• Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
• tetra-amelia syndrome
• tetraphocomelia-cleft palate syndrome see Roberts syndrome
• tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
• tetrasomy 18p
• thanatophoric dysplasia
• thoracic asphyxiant dystrophy see asphyxiating thoracic dystrophy
• three-M slender-boned nanism see 3-M syndrome
• three M syndrome see 3-M syndrome
• thrombocytopenia-absent radius syndrome
• tibial muscular dystrophy
• Timothy syndrome
• TMD see tibial muscular dystrophy
• Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
• total HPRT deficiency see Lesch-Nyhan syndrome
• total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
• Townes-Brocks Syndrome
• Townes syndrome see Townes-Brocks Syndrome
• Treacher Collins syndrome
• tricho-rhino-phalangeal syndrome type II see Langer-Giedion syndrome
• trichorhinophalangeal syndrome type II see Langer-Giedion syndrome
• trichothiodystrophy
• Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
• triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
• trisomy 13
• trisomy 18
• Troyer syndrome
• TRPS II see Langer-Giedion syndrome
• TS see Timothy syndrome
• TTD see trichothiodystrophy
• tumor of the Ewing family see Ewing sarcoma
• Turner-Kieser Syndrome see nail-patella syndrome
• Turner-like syndrome see Noonan syndrome
• Turner syndrome in female with X chromosome see Noonan syndrome
• Turner's phenotype, karyotype normal see Noonan syndrome
• UCMD see Ullrich congenital muscular dystrophy
• UDA syndrome see Muckle-Wells syndrome
• Udd distal myopathy see tibial muscular dystrophy
• Udd-Markesbery muscular dystrophy see tibial muscular dystrophy
• Udd myopathy see tibial muscular dystrophy
• Ullrich congenital muscular dystrophy
• Ullrich-Noonan syndrome see Noonan syndrome
• unilateral intrauterine facial necrosis see craniofacial microsomia
• unilateral mandibulofacial dysostosis see craniofacial microsomia
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• VACTERL association
• van Buchem disease see SOST-related sclerosing bone dysplasia
• VATER association see VACTERL association
• VCFS see 22q11.2 deletion syndrome
• VCPDM see distal myopathy 2
• VDRR see hereditary hypophosphatemic rickets
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• Ventriculo-radial syndrome see Holt-Oram syndrome
• vertebral cervical fusion syndrome see Klippel-Feil syndrome
• vertebral fusion with carpal coalition see spondylocarpotarsal synostosis syndrome
• vitamin D-resistant rickets see hereditary hypophosphatemic rickets
• Vitamin E Deficiency see ataxia with vitamin E deficiency
• vocal cord and pharyngeal weakness with distal myopathy see distal myopathy 2
• Von Eulenberg's disease see paramyotonia congenita
• Vrolik disease see osteogenesis imperfecta
• WBS see Williams syndrome
• Weill-Marchesani syndrome
• Weissenbacher-Zweymüller syndrome
• Werner syndrome
• Westphall disease see hypokalemic periodic paralysis
• Weyers acrofacial dysostosis
• whistling face syndrome see Freeman-Sheldon syndrome
• whistling face-windmill vane hand syndrome see Freeman-Sheldon syndrome
• WHS see Wolf-Hirschhorn syndrome
• Willi-Prader syndrome see Prader-Willi syndrome
• Williams syndrome
• WMS see Weill-Marchesani syndrome; Williams syndrome
• Wolf-Hirschhorn syndrome
• WS see Werner syndrome; Williams syndrome
• WZS see Weissenbacher-Zweymüller syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenoleukodystrophy
• X-linked chondrodysplasia punctata 1
• X-linked chondrodysplasia punctata 2
• X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
• X-linked corpus callosum agenesis see L1 syndrome
• X-linked dystonia-parkinsonism
• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
• X-linked hyperuricemia see Lesch-Nyhan syndrome
• X-linked intellectual deficit with marfanoid habitus see Lujan syndrome
• X-linked mental retardation and macroorchidism see fragile X syndrome
• X-linked mental retardation with marfanoid habitus see Lujan syndrome
• X-linked myotubular myopathy
• X-linked primary hyperuricemia see Lesch-Nyhan syndrome
• X linked Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 2
• X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
• X-linked spondyloepiphyseal dysplasia tarda
• X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
• XDP see X-linked dystonia-parkinsonism
• XLMR with marfanoid features see Lujan syndrome
• XLMTM see X-linked myotubular myopathy
• XMTM see X-linked myotubular myopathy
• Yakut short stature syndrome see 3-M syndrome
• Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• zygoauromandibular dysplasia see Treacher Collins syndrome