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
• 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 Disease 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
• Aglucosidase alfa see Pompe disease
• AKU see alkaptonuria
• 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
• AMP deaminase deficiency see adenosine monophosphate deaminase deficiency
• amyotrophic lateral sclerosis
• 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
• 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 Hereditary Spastic Paraplegia see spastic paraplegia type 4
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• 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
• 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
• Brachmann-De Lange Syndrome see Cornelia de Lange 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
• Camurati-Engelmann disease
• Cardiac-limb syndrome see Holt-Oram syndrome
• Cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• cardiofaciocutaneous syndrome
• cardiomegalia glycogenica diffusa see Pompe disease
• 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
• 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
• 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 4p deletion syndrome see Wolf-Hirschhorn syndrome
• chromosome 4p monosomy see Wolf-Hirschhorn syndrome
• chromosome 17p deletion syndrome see Smith-Magenis syndrome
• 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
• CINCA see neonatal onset multisystem inflammatory disease
• Classical Niemann-Pick Disease see Niemann-Pick disease
• cleidocranial dysplasia
• CLS see Coffin-Lowry syndrome
• 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
• 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 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 II deficiency
• CPTII see carnitine palmitoyltransferase II deficiency
• Craniofacial dysarthrosis see Crouzon syndrome
• Craniofacial Dysostosis see Crouzon syndrome
• Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
• 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
• Cystine storage disease see cystinosis
• Cystinoses see cystinosis
• cystinosis
• Czech dysplasia
• 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
• Deficiency of lysosomal alpha-glucosidase see Pompe disease
• 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• 4p Deletion Syndrome see Wolf-Hirschhorn syndrome
• deletion 17p syndrome see Smith-Magenis syndrome
• 22q11.2 deletion syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• 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 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
• 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, 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 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
• FA see Friedreich ataxia
• Facio-digito-genital dysplasia see Aarskog-Scott syndrome
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• Faciogenital dysplasia see Aarskog-Scott syndrome
• faciopalatoosseous syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• Familial benign giant-cell tumor of the jaw see cherubism
• familial cold autoinflammatory syndrome
• Familial Exostoses see hereditary multiple exostoses
• Familial fibrous dysplasia of jaw see cherubism
• Familial Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
• Familial Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• Familial multilocular cystic disease of the jaws see cherubism
• 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
• 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
• 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
• 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
• GAMT deficiency see guanidinoacetate methyltransferase deficiency
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• Generalized Glycogenosis, Cardiac Form see Pompe disease
• Glycogen Storage Disease Type II see Pompe disease
• Glycogenosis Type II see Pompe disease
• Greig cephalopolysyndactyly syndrome
• GSD II see Pompe disease
• guanidinoacetate methyltransferase deficiency
• 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 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
• 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
• HGPS see Hutchinson-Gilford progeria syndrome
• HIBM see inclusion body myopathy 2
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HMSN see Charcot-Marie-Tooth disease
• HOKPP see hypokalemic periodic paralysis
• Holt-Oram syndrome
• Homogentisic acid oxidase deficiency see alkaptonuria
• Homogentisic acidura see alkaptonuria
• 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
• HyperPP see hyperkalemic periodic paralysis
• Hyperpyrexia, Malignant see malignant hyperthermia
• Hyperthermia, Malignant see malignant hyperthermia
• Hypochondrodysplasia see hypochondroplasia
• hypochondrogenesis
• hypochondroplasia
• hypokalemic 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
• 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
• 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
• 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
• Jackson-Weiss syndrome
• Jeune syndrome see asphyxiating thoracic dystrophy
• Jeune thoracic dysplasia see asphyxiating thoracic dystrophy
• Jeune thoracic dystrophy see asphyxiating thoracic dystrophy
• Job syndrome
• Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
• juvenile hyaline fibromatosis
• Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
• JWS see Jackson-Weiss syndrome
• 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
• L1 syndrome
• Laing distal myopathy
• 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
• Lysosomal alpha-1,4-glucosidase deficiency see Pompe 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
• 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
• 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
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• Minicore disease see multiminicore disease
• Minicore myopathy see multiminicore disease
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• 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
• 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 II 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, 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
• Myopathy, Central Core see central core disease
• Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Myositis Ossificans see fibrodysplasia ossificans progressiva
• myostatin-related muscle hypertrophy
• Myotonia atrophica see myotonic dystrophy
• myotonia congenita
• Myotonia dystrophica see myotonic dystrophy
• myotonic dystrophy
• nail-patella syndrome
• Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
• Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• neonatal onset multisystem inflammatory disease
• Neonatal osseous dysplasia 1 see atelosteogenesis type 2
• Neuroacanthocytosis see chorea-acanthocytosis
• 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
• 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
• oculopharyngeal muscular dystrophy
• 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, Supraoptic Vertical see Niemann-Pick disease
• OPMD see oculopharyngeal muscular dystrophy
• Oppenheim dystonia see early-onset primary dystonia
• OSMED see otospondylomegaepiphyseal dysplasia
• osteitis fibrosa disseminata see McCune-Albright syndrome
• Osteodermia see progressive osseous heteroplasia
• osteodysplasty of Melnick and Needles see Melnick-Needles syndrome
• 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
• 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
• 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
• 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
• PHS see Pallister-Hall syndrome
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller 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
• 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
• PSACH see pseudoachondroplasia
• 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
• QSM see inclusion body myopathy 2
• 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
• 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
• 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
• 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
• 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
• SPG20 see Troyer syndrome
• SPG3A see spastic paraplegia type 3A
• 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
• 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
• 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
• Tardive tibial muscular dystrophy see tibial muscular dystrophy
• Taybi syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
• tetra-amelia syndrome
• tetraphocomelia-cleft palate syndrome see Roberts 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
• 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
• 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
• 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
• 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
• 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
• WBS see Williams syndrome
• Weill-Marchesani syndrome
• Weissenbacher-Zweymüller syndrome
• Werner syndrome
• Westphall disease see hypokalemic periodic paralysis
• WHS see Wolf-Hirschhorn 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 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
• Yakut short stature syndrome see 3-M syndrome
• zygoauromandibular dysplasia see Treacher Collins syndrome