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	Genetic Conditions: Bone and Muscle 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. - A - Aarskog-Scott syndrome Aarskog syndrome see Aarskog-Scott syndrome AAS see Aarskog-Scott syndrome ACADS deficiency see Short-chain acyl-coenzyme A 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 ACS III see Saethre-Chotzen syndrome ACS V see Pfeiffer syndrome ACS3 see Saethre-Chotzen syndrome ACS5 see Pfeiffer syndrome Adenosine monophosphate deaminase deficiency 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 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 Alpha-1,4-glucosidase deficiency see Pompe disease ALS see Amyotrophic lateral sclerosis AMD see Pompe disease 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 Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome Andersen syndrome see Andersen-Tawil syndrome Andersen-Tawil syndrome Anesthesia related hyperthermia see Malignant hyperthermia Ankylosing spondylitis 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 Apert syndrome Appelt-Gerken-Lenz syndrome see Roberts syndrome ARSACS see Autosomal recessive spastic ataxia of Charlevoix-Saguenay AS see Ankylosing spondylitis Asphyxiating thoracic dystrophy Ataxia with oculomotor apraxia Ataxia with vitamin E deficiency Atelosteogenesis type 2 Atrio-digital syndrome see Holt-Oram syndrome Atriodigital dysplasia see Holt-Oram syndrome ATS see Andersen-Tawil syndrome Autosomal dominant craniometaphyseal dysplasia see Craniometaphyseal dysplasia Autosomal dominant hereditary spastic paraplegia see Spastic paraplegia type 4 Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Autosomal recessive craniometaphyseal dysplasia see Craniometaphyseal dysplasia Autosomal recessive hereditary spastic paraplegia see Spastic paraplegia type 7; Troyer syndrome Autosomal recessive spastic ataxia of Charlevoix-Saguenay AVED see Ataxia with vitamin E deficiency - B - Baller-Gerold 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 scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy Bessel-Hagen disease see Hereditary multiple exostoses Beuren syndrome see Williams syndrome BGS see Baller-Gerold syndrome Bloom syndrome 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 Brittle bone disease see Osteogenesis imperfecta Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome Buckley syndrome see Job syndrome Bulbospinal muscular atrophy, X-linked see Spinal and bulbar muscular atrophy - C - Campomelic dysplasia Camptomelic dysplasia see campomelic dysplasia Camurati-Engelmann disease Cardiac-limb syndrome see Holt-Oram syndrome Cardio-facio-cutaneous syndrome see Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Carnitine palmitoyltransferase 2 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 CDLS see Cornelia de Lange syndrome CDS see Chanarin-Dorfman syndrome CED see Camurati-Engelmann disease Central core disease 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 CFC syndrome see Cardiofaciocutaneous syndrome CFEOM see Congenital fibrosis of the extraocular muscles 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 Cherubism CHH see Cartilage-hair hypoplasia CHILD syndrome see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Chondrodystrophia fetalis see Achondroplasia Chondrodystrophy syndrome see Achondroplasia Chondrodystrophy with sensorineural deafness see Otospondylomegaepiphyseal dysplasia Chondroectodermal dysplasia see Ellis-van Creveld syndrome Chondroectodermal dysplasia-like syndrome see Asphyxiating thoracic dystrophy Chorea-acanthocytosis Choreoacanthocytosis see 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 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 recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome CINCA see Neonatal onset multisystem inflammatory disease Classical Niemann-Pick disease see Niemann-Pick disease Cleidocranial dysplasia CLS see Coffin-Lowry syndrome CMD see craniometaphyseal dysplasia CMT see Charcot-Marie-Tooth disease CNM see X-linked myotubular myopathy Cockayne-Pelizaeus-Merzbacher disease see Pelizaeus-Merzbacher disease Cockayne syndrome Coffin-Lowry syndrome Cold hypersensitivity see Familial cold autoinflammatory 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 Congenital contractural arachnodactyly Congenital fibrosis of the extraocular muscles Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital lipomatosis of pancreas see Shwachman-Diamond syndrome Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome Congenital myotonia see Myotonia congenita Congenital osteosclerosis see Achondroplasia Congenital poikiloderma see Rothmund-Thomson syndrome Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome Contractural arachnodactyly, congenital see Congenital contractural arachnodactyly Cornelia de Lange syndrome CPT2 see Carnitine palmitoyltransferase 2 deficiency CPTII see Carnitine palmitoyltransferase 2 deficiency Craniofacial dysarthrosis see Crouzon syndrome Craniofacial dysostosis see Crouzon syndrome 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 Creatine deficiency, cerebral see Guanidinoacetate methyltransferase deficiency Creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency 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 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 P450 oxidoreductase deficiency Czech dysplasia - D - DAF syndrome see Niemann-Pick disease Dappled metaphysis syndrome see Spondyloepimetaphyseal dysplasia, Strudwick type DBMD see Duchenne and Becker muscular dystrophy 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 Deficiency of alkaline phosphatase see hypophosphatasia Deficiency of alpha-glucosidase see Pompe disease Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome 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 Deletion 17p syndrome see Smith-Magenis syndrome 22q11.2 deletion syndrome Dermatolysis see cutis laxa Dermatomegaly see cutis laxa DGSX see Simpson-Golabi-Behmel syndrome DHMN-V see Distal hereditary motor neuropathy, type V Diaphyseal aclasis see Hereditary multiple exostoses Diaphyseal dysplasia, Progressive see Camurati-Engelmann disease Diaphyseal hyperostosis see Camurati-Engelmann disease Diastrophic dysplasia DiGeorge syndrome see 22q11.2 deletion syndrome Distal hereditary motor neuropathy, type II Distal hereditary motor neuropathy, type V Distal myopathy 1 see Laing distal myopathy Distal myopathy with rimmed vacuoles see Inclusion body myopathy 2 DMRV see Inclusion body myopathy 2 Dolichospondylic dysplasia see 3-M syndrome DRRS see Duane-radial ray syndrome DSMAV see Distal hereditary motor neuropathy, type V DTD see Diastrophic dysplasia Duane-radial ray syndrome Duchenne and Becker muscular dystrophy Dwarf, achondroplastic see Achondroplasia Dwarf, thanatophoric see Thanatophoric dysplasia Dwarfism-retinal atrophy-deafness syndrome see Cockayne 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 - E - EAOH see Ataxia with oculomotor apraxia Early-onset ataxia with ocular motor apraxia and hypoalbuminemia see Ataxia with oculomotor apraxia Early-onset primary dystonia 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 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 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 Eulenburg disease see Paramyotonia congenita Exercise-induced myopathy see Adenosine monophosphate deaminase deficiency Exostoses, multiple hereditary see Hereditary multiple exostoses - F - FA see Friedreich ataxia Facio-digito-genital dysplasia see Aarskog-Scott syndrome Facio-genito-popliteal syndrome see popliteal pterygium syndrome Facio-scapulo-humeral dystrophy see Facioscapulohumeral muscular dystrophy 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 exostoses see Hereditary multiple exostoses Familial fibrous dysplasia of jaw see Cherubism 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 multilocular cystic disease of the jaws see Cherubism Familial osteoectasia see Juvenile Paget disease Familial Turner syndrome see Noonan syndrome Farber lipogranulomatosis 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 Fibrodysplasia ossificans progressiva Fibrous dysplasia, polyostotic see McCune-Albright syndrome Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome FIVE see Ataxia with vitamin E deficiency Focal dermal hypoplasia Fong disease see Nail-patella syndrome Foramina parietalia permagna see Enlarged parietal foramina 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 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 FSH muscular dystrophy see Facioscapulohumeral muscular dystrophy FSHD see Facioscapulohumeral muscular dystrophy Fukuhara disease see myoclonic epilepsy with ragged-red fibers Fukuyama congenital muscular dystrophy FXS see fragile X syndrome - G - GAA deficiency see Pompe disease Gamstorp disease see Hyperkalemic periodic paralysis Gamstorp episodic adynamy see Hyperkalemic periodic paralysis GAMT deficiency see guanidinoacetate methyltransferase deficiency Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome Gaze palsy, familial horizontal, with progressive scoliosis see Horizontal gaze palsy with progressive scoliosis Geleophysic dysplasia General fibrosis syndrome see Congenital fibrosis of the extraocular muscles Giedion-Langer syndrome see Langer-Giedion syndrome Glycogen storage disease type II see Pompe disease Glycogenosis type II see Pompe disease Goltz-Gorlin syndrome see Focal dermal hypoplasia Goltz syndrome see Focal dermal hypoplasia Gout, PRPS-related see Phosphoribosylpyrophosphate synthetase superactivity Greig cephalopolysyndactyly syndrome GSD II see Pompe disease GSD2 see Pompe disease Guanidinoacetate methyltransferase deficiency - H - Hall-Pallister syndrome see Pallister-Hall syndrome Hand-foot-genital syndrome Hand-foot-uterus syndrome see Hand-foot-genital syndrome HCH see hypochondroplasia Heart-hand syndrome, type 1 see Holt-Oram 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 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 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 spastic paraplegia Hereditary spinal ataxia see Friedreich ataxia Hereditary spinal sclerosis see Friedreich ataxia 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 HFU syndrome see Hand-foot-genital syndrome HGPPS see Horizontal gaze palsy with progressive scoliosis HGPS see Hutchinson-Gilford progeria syndrome HIBM see Inclusion body myopathy 2 HIE syndrome see Job syndrome HIES see Job syndrome HML see myopathy with deficiency of iron-sulfur cluster assembly enzyme HMN V see Distal hereditary motor neuropathy, type V 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 Hutchinson-Gilford progeria syndrome 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 Hyperphosphatasemia with bone disease see Juvenile Paget disease Hyperphosphatasia, familial idiopathic see Juvenile Paget disease HyperPP see Hyperkalemic periodic paralysis Hyperpyrexia, malignant see Malignant hyperthermia Hyperthermia, malignant see Malignant hyperthermia Hypochondrodysplasia see hypochondroplasia Hypochondrogenesis Hypochondroplasia Kypokalemic periodic paralysis HypoKPP see Hypokalemic periodic paralysis Hypomelia hypotrichosis facial hemangioma syndrome see Roberts syndrome Hypophosphatasia HypoPP see Hypokalemic periodic paralysis Hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome - I - I-cell disease see Mucolipidosis II alpha/beta 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 Idiopathic hyperphosphatasia see Juvenile Paget disease 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 systemic hyalinosis Infantile thoracic dystrophy see Asphyxiating thoracic dystrophy inherited systemic hyalinosis see Infantile systemic hyalinosis; Juvenile hyaline fibromatosis Insley-Astley syndrome see Otospondylomegaepiphyseal dysplasia 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 - J - Jackson-Weiss syndrome Jacobsen syndrome Jeune syndrome see Asphyxiating thoracic dystrophy Jeune thoracic dysplasia see Asphyxiating thoracic dystrophy Jeune thoracic dystrophy see Asphyxiating thoracic dystrophy Job syndrome JPD see Juvenile Paget disease Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome Juvenile hyaline fibromatosis Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome Juvenile Paget disease JWS see Jackson-Weiss syndrome - K - KD see Spinal and bulbar muscular atrophy Kennedy disease see Spinal and bulbar muscular atrophy Kennedy spinal and bulbar muscular atrophy see Spinal and bulbar muscular atrophy Kniest dysplasia Krause-Kivlin syndrome see Peters plus syndrome Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome - L - L1 syndrome Laing distal myopathy Landouzy-Dejerine dystrophy see Facioscapulohumeral muscular dystrophy Langer-Giedion syndrome Late-onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda Le Merrer syndrome see 3-M syndrome Lenz microphthalmia syndrome Lesch-Nyhan syndrome Lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency Lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease LNS see Lesch-Nyhan 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 Lubag see X-linked dystonia-parkinsonism - M - 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 Majeed syndrome Male Turner syndrome see Noonan syndrome Malignant hyperthermia Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome 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 Martin-Bell syndrome see fragile X syndrome MAS see McCune-Albright syndrome MASA syndrome see L1 syndrome McAlister dysplasia see Atelosteogenesis type 2 McCune-Albright syndrome 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 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-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 type II see Kniest dysplasia 3-methylglutaconic aciduria MFS see Marfan syndrome MHS - Malignant hyperthermia see Malignant hyperthermia Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome see Feingold syndrome Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome see Feingold syndrome Microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome Minicore disease see Multiminicore disease Minicore myopathy see Multiminicore disease Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria see Succinate-coenzyme A ligase deficiency Mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria see Succinate-coenzyme A ligase deficiency Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 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 Motor neuron disease, amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis MPD1 see Laing distal myopathy 3-MSBN see 3-M syndrome MSS see Marinesco-Sjögren syndrome MTMX see X-linked myotubular myopathy Muckle-Wells syndrome Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta Mucolipidosis III gamma Muenke syndrome Multi-minicore disease see Multiminicore disease Multicore disease see Multiminicore disease Multicore myopathy see Multiminicore disease Multiminicore disease 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 Murray syndrome see Juvenile hyaline fibromatosis Muscle form of carnitine palmitoyltransferase deficiency see Carnitine palmitoyltransferase 2 deficiency Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy 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 Myoadenylate deaminase deficiency see Adenosine monophosphate deaminase deficiency Myoclonic epilepsy with ragged-red fibers Myoencephalopathy ragged-red fiber disease see myoclonic epilepsy with ragged-red fibers Myoglobinuria due to abnormal glycolysis see myopathy with deficiency of iron-sulfur cluster assembly enzyme Myopathy, central core see Central core disease Myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Myopathy with deficiency of iron-sulfur cluster assembly enzyme Myositis ossificans see fibrodysplasia ossificans progressiva Myostatin-related muscle hypertrophy Myotonia atrophica see Myotonic dystrophy Myotonia congenita Myotonia dystrophica see Myotonic dystrophy Myotonic dystrophy - N - 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 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 Neuroacanthocytosis see Chorea-acanthocytosis Neuronal Cholesterol Lipidosis see Niemann-Pick disease Neuronopathy, distal hereditary motor, type V see Distal hereditary motor neuropathy, type V 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 NLSDM see neutral lipid storage disease with myopathy Noack syndrome see Pfeiffer syndrome NOMID see Neonatal onset multisystem inflammatory disease Nonaka myopathy see Inclusion body myopathy 2 Noonan syndrome NPD see Niemann-Pick disease - O - Oculo-dento-digital dysplasia see Oculodentodigital dysplasia Oculo-dento-osseous dysplasia see Oculodentodigital dysplasia Oculo-digito-esophagoduodental (ODED) syndrome see Feingold syndrome Oculodentodigital dysplasia Oculodentoosseous dysplasia see oculodentodigital dysplasia Oculopharyngeal muscular dystrophy ODD syndrome see Oculodentodigital dysplasia ODDD see Oculodentodigital dysplasia ODOD see Oculodentodigital dysplasia OFDS see Oral-facial-digital syndrome 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 Oral-facial-digital syndrome 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 Osteodermia see Progressive osseous heteroplasia Osteodysplasty of Melnick and Needles see Melnick-Needles syndrome Osteoectasia with hyperphosphatasia see Juvenile Paget disease Osteogenesis imperfecta Osteoma cutis see Progressive osseous heteroplasia Osteosclerosis congenita see Achondroplasia Osteosis cutis see Progressive osseous heteroplasia Osterreicher syndrome see Nail-patella syndrome Oto-spondylo-megaepiphyseal dysplasia see Otospondylomegaepiphyseal dysplasia Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia - P - 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 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 Pelizaeus-Merzbacher disease Pelvic Horn syndrome see Nail-patella syndrome 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 Phosphoethanolaminuria see hypophosphatasia Phosphoribosylpyrophosphate synthetase superactivity PHS see Pallister-Hall syndrome Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome PKS see Pallister-Killian mosaic 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 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 Potassium-aggravated myotonia PPS see Popliteal pterygium syndrome Prader-Labhart-Willi syndrome see Prader-Willi syndrome Prader-Willi 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 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 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 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 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 Puretic syndrome see Juvenile hyaline fibromatosis PWS see Prader-Willi syndrome - Q - QSM see Inclusion body myopathy 2 - R - Radial aplasia-amegakaryocytic thrombocytopenia see Thrombocytopenia-absent radius syndrome Radial aplasia-thrombocytopenia syndrome see Thrombocytopenia-absent radius syndrome RBS see Roberts syndrome Renal carnitine transport defect see Primary carnitine deficiency Renal-ear-anal-radial syndrome (REAR) see Townes-Brocks syndrome Rimmed vacuole myopathy see Inclusion body myopathy 2 rMED see Multiple epiphyseal dysplasia Roberts syndrome Robinow syndrome 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 - S - SADDAN Saethre-Chotzen syndrome 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-coenzyme A dehydrogenase deficiency SCADH deficiency see Short-chain acyl-coenzyme A dehydrogenase deficiency SCAN2 see Ataxia with oculomotor apraxia SCAR1 see Ataxia with oculomotor apraxia Schilder-Addison Complex see X-linked adrenoleukodystrophy Schimke immuno-osseous dysplasia Sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease Sclerosteosis see SOST-related sclerosing bone dysplasia SCS see Saethre-Chotzen syndrome SDS see Shwachman-Diamond syndrome SDYS see Simpson-Golabi-Behmel syndrome SED congenita see Spondyloepiphyseal dysplasia congenita SED Strudwick see Spondyloepimetaphyseal dysplasia, Strudwick type SED tarda see X-linked spondyloepiphyseal dysplasia tarda 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 Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN SGBS see Simpson-Golabi-Behmel syndrome Short-chain acyl-coenzyme A 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 Silver-Russell Dwarfism see Russell-Silver syndrome Silver-Russell syndrome see Russell-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 SMA see Spinal muscular atrophy 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 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 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 SPD see Spondyloperipheral dysplasia SPG1 see L1 syndrome SPG3A see Spastic paraplegia type 3A 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 Spinocerebellar Ataxia, Friedreich see Friedreich ataxia Spinocerebellar ataxia, recessive, non-Friedreich type 1 see Ataxia with oculomotor apraxia Spinocerebellar ataxia with axonal neuropathy type 2 see Ataxia with oculomotor apraxia 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 Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia congenita Spondylometaepiphyseal dysplasia congenita, Strudwick type see Spondyloepimetaphyseal dysplasia, Strudwick type Spondylometaphyseal dysplasia (SMD) see Spondyloepimetaphyseal dysplasia, Strudwick type Spondyloperipheral dysplasia SRS see Russell-Silver syndrome SSB syndrome see SADDAN Stickler syndrome Strudwick syndrome see Spondyloepimetaphyseal dysplasia, Strudwick type Succinate-CoA ligase deficiency see Succinate-coenzyme A ligase deficiency Succinate-coenzyme A 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 - T - TAR syndrome see Thrombocytopenia-absent radius syndrome Tardive tibial muscular dystrophy see Tibial muscular dystrophy Taybi syndrome see Otopalatodigital syndrome type 1; Otopalatodigital syndrome type 2 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 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 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 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 - U - 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-Noonan syndrome see Noonan syndrome Urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome - V - van Buchem disease see SOST-related sclerosing bone dysplasia VCFS see 22q11.2 deletion syndrome Velo-cardio-facial syndrome see 22q11.2 deletion syndrome Velocardiofacial syndrome see 22q11.2 deletion syndrome Ventriculo-radial syndrome see Holt-Oram syndrome Vitamin E Deficiency see Ataxia with vitamin E deficiency von Eulenberg's disease see Paramyotonia congenita Vrolik disease see Osteogenesis imperfecta - W - WBS see Williams syndrome Weill-Marchesani syndrome Weissenbacher-Zweymüller syndrome Werner syndrome Westphall disease see Hypokalemic periodic paralysis 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 - X-ALD see X-linked adrenoleukodystrophy X-linked adrenoleukodystrophy 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 mental retardation and macroorchidism see fragile X 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 XLMTM see X-linked myotubular myopathy XMTM see X-linked myotubular myopathy - Y - Yakut short stature syndrome see 3-M syndrome - Z - Zygoauromandibular dysplasia see Treacher Collins syndrome The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.