Genetic Diseases & Conditions - 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.

ACH see achondroplasia
achondrogenesis
achondroplasia
Acrocephalosyndactyly (Apert) see Apert syndrome
acrocephalosyndactyly, type V see Pfeiffer syndrome
Adelaide-type craniosynostosis see Muenke syndrome
Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
AKU see alkaptonuria
Alcaptonuria see alkaptonuria
alkaptonuria
Alkaptonuric ochronosis see alkaptonuria
ALS see amyotrophic lateral sclerosis
amyotrophic lateral sclerosis
Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
Andersen syndrome see Andersen-Tawil syndrome
Andersen-Tawil syndrome
ankylosing spondylitis
AO2 see atelosteogenesis, type 2
Apert syndrome
Arachnodactyly see Marfan syndrome
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
AS - Ankylosing spondylitis see ankylosing spondylitis
atelosteogenesis, type 2
ATS see Andersen-Tawil syndrome
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
Bartholin-Patau syndrome see trisomy 13
BDLS see Cornelia de Lange syndrome
Beare-Stevenson cutis gyrata syndrome
Bechterew Disease see ankylosing spondylitis
Beuren syndrome see Williams syndrome
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Brittle bone disease see osteogenesis imperfecta
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
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
CATCH22 see 22q11.2 deletion syndrome
CAVE complex see Pallister-Hall syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CDLS see Cornelia de Lange syndrome
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
Charcot disease see amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Chondrodystrophia foetalis see achondroplasia
Chondrodystrophy syndrome see achondroplasia
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
chromosome 13 trisomy syndrome see trisomy 13
chromosome 17p deletion syndrome see Smith-Magenis syndrome
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
Classical Niemann-Pick Disease see Niemann-Pick disease
Cloverleaf skull with thanatophoric dwarfism see thanatophoric dysplasia, type 2
CLS see Coffin-Lowry syndrome
CMT see Charcot-Marie-Tooth disease
Cockayne syndrome
Coffin-Lowry 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 osteosclerosis see achondroplasia
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Cornelia de Lange syndrome
CPT2 - Carnitine palmitoyltransferase II deficiency see carnitine palmitoyltransferase II deficiency
CPTII - Carnitine palmitoyltransferase deficiency type II see carnitine palmitoyltransferase II deficiency
Craniofacial dysarthrosis see Crouzon syndrome
Craniofacial Dysostosis see Crouzon syndrome
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
CS see Cockayne syndrome
CUD see primary carnitine deficiency
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
Cystine diathesis see cystinosis
Cystine disease see cystinosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
D1 Trisomy see trisomy 13
DAF syndrome see Niemann-Pick disease
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
DBMD see muscular dystrophy, Duchenne and Becker types
De la Chapelle dysplasia see atelosteogenesis, type 2
De Lange Syndrome see Cornelia de Lange syndrome
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
deletion 17p syndrome see Smith-Magenis syndrome
22q11.2 deletion syndrome
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
diastrophic dysplasia
DiGeorge Syndrome see 22q11.2 deletion syndrome
DM1 see myotonic dystrophy, type 1
DM2 see myotonic dystrophy, type 2
DTD see diastrophic dysplasia
Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types
Dwarf, achondroplastic see achondroplasia
Dwarf, thanatophoric see thanatophoric dysplasia
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
Dystrophia myotonica see myotonic dystrophy
E3 Trisomy see trisomy 18
EDM4 see recessive multiple epiphyseal dysplasia
EDS see Ehlers-Danlos syndrome
Edwards Syndrome see trisomy 18
Ehlers-Danlos syndrome
Ekman-Lobstein disease see osteogenesis imperfecta
Elfin Facies Syndrome see Williams syndrome
Elfin facies with hypercalcemia see Williams syndrome
Ellis-van Creveld syndrome
Epiphyseal dysplasia, multiple, 4 see recessive multiple epiphyseal dysplasia
FA - Friedreich ataxia see Friedreich ataxia
FALS see amyotrophic lateral sclerosis
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis
familial Turner syndrome see Noonan syndrome
Female Pseudo-Turner Syndrome see Noonan syndrome
FGFR3-associated coronal synostosis see Muenke syndrome
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
FXS see fragile X syndrome
Greig cephalopolysyndactyly syndrome
Hall-Pallister syndrome see Pallister-Hall syndrome
HCH see hypochondroplasia
Hereditary arthro-ophthalmopathy see Stickler syndrome
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
hereditary motor neuroneopathy see spinal muscular atrophy
Hereditary spinal ataxia see Friedreich ataxia
Hereditary Spinal Sclerosis see Friedreich ataxia
Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
HGPS see Hutchinson-Gilford progeria syndrome
HMSN see Charcot-Marie-Tooth disease
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Hutchinson-Gilford progeria syndrome
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
Hypochondrodysplasia see hypochondroplasia
hypochondrogenesis
hypochondroplasia
hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome
Infantile hypercalcemia see Williams syndrome
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
Jackson-Weiss syndrome
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
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
Lesch-Nyhan syndrome
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
LNS see Lesch-Nyhan syndrome
Long QT syndrome 7 see Andersen-Tawil syndrome
Lou Gehrig Disease see amyotrophic lateral sclerosis
LQT7 see Andersen-Tawil syndrome
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type
Male Turner Syndrome see Noonan syndrome
Mandibulofacial Dysostosis see Treacher Collins syndrome
Marfan syndrome
Marie-Struempell Disease see ankylosing spondylitis
Marker X syndrome see fragile X syndrome
Martin-Bell Syndrome see fragile X syndrome
McAlister dysplasia see atelosteogenesis, type 2
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
Metatropic dwarfism, type II see Kniest dysplasia
Metatropic dysplasia type II see Kniest dysplasia
3-methylglutaconic aciduria
MFD1 see Treacher Collins syndrome
MFS see Marfan syndrome
Motor Neurone Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
Muenke syndrome
Multiple epiphyseal dysplasia, autosomal recessive see recessive multiple epiphyseal dysplasia
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
muscular dystrophy, Duchenne and Becker types
Myotonia atrophica see myotonic dystrophy
Myotonia dystrophica see myotonic dystrophy
myotonic dystrophy
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
Neonatal osseous dysplasia 1 see atelosteogenesis, type 2
Neuronal Cholesterol Lipidosis see Niemann-Pick disease
Niemann-Pick disease
Noack syndrome see Pfeiffer syndrome
Noonan syndrome
NPD see Niemann-Pick disease
Ochronosis see alkaptonuria
Ochronotic arthritis see alkaptonuria
OI see osteogenesis imperfecta
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
OSMED see otospondylomegaepiphyseal dysplasia
osteogenesis imperfecta
Osteopsathyrosis see osteogenesis imperfecta
Osteosclerosis congenita see achondroplasia
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Pallister-Hall syndrome
Patau syndrome see trisomy 13
PDM see myotonic dystrophy, type 2
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
Pfeiffer syndrome
PHS see Pallister-Hall syndrome
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
platyspondylic lethal skeletal dysplasia, Torrance type
PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
PMA see Charcot-Marie-Tooth disease
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
primary carnitine deficiency
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Progeria see Hutchinson-Gilford progeria syndrome
Progeria-Like Syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
Progressive Muscular Atrophy see spinal muscular atrophy
Progressively deforming osteogenesis imperfecta with normal sclerae see osteogenesis imperfecta, type III
PROMM see myotonic dystrophy, type 2
Proximal myotonic dystrophy see myotonic dystrophy, type 2
Proximal myotonic myopathy see myotonic dystrophy, type 2
pseudo-Ullrich-Turner syndrome see Noonan syndrome
PWS see Prader-Willi syndrome
recessive multiple epiphyseal dysplasia
Renal carnitine transport defect see primary carnitine deficiency
Rheumatoid Spondylitis see ankylosing spondylitis
Ricker syndrome see myotonic dystrophy, type 2
rMED see recessive multiple epiphyseal dysplasia
RSH Syndrome see Smith-Lemli-Opitz syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
SADDAN
SBMA see spinal and bulbar muscular atrophy
Schilder-Addison Complex see X-linked adrenoleukodystrophy
SED congenita see spondyloepiphyseal dysplasia congenita
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
SEDc see spondyloepiphyseal dysplasia congenita
Sedlackova syndrome see 22q11.2 deletion syndrome
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
Shprintzen syndrome see 22q11.2 deletion syndrome
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
SPD see spondyloperipheral dysplasia
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
Spondylarthritis Ankylopoietica see ankylosing spondylitis
Spondylitis ankylopoietica see ankylosing spondylitis
Spondylitis, Ankylosing see ankylosing spondylitis
Spondyloarthritis Ankylopoietica see ankylosing spondylitis
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
Spondylometaphyseal Dysplasia, Strudwick Type see spondyloepimetaphyseal dysplasia, Strudwick type
spondyloperipheral dysplasia
SSB syndrome see SADDAN
Steinert Disease see myotonic dystrophy, type 1
Stickler syndrome
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
Supravalvar aortic stenosis syndrome see Williams syndrome
Swiss cheese cartilage dysplasia see Kniest dysplasia
17p- syndrome see Smith-Magenis syndrome
Systemic carnitine deficiency see primary carnitine deficiency
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia, type 2
thanatophoric dysplasia
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
Treacher Collins syndrome
Trias fragilitis ossium see osteogenesis imperfecta, type I
trisomy 13
trisomy 18
Turner-like syndrome see Noonan syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
Ullrich-Noonan syndrome see Noonan syndrome
Van der Hoeve syndrome see osteogenesis imperfecta, type I
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
Vrolik disease see osteogenesis imperfecta
WBS see Williams syndrome
Weissenbacher-Zweymüller syndrome
Werner syndrome
Williams syndrome
WMS see Williams syndrome
WS see Werner syndrome; Williams syndrome
WZS see Weissenbacher-Zweymüller syndrome
X-linked adrenoleukodystrophy
X-linked hyperuricemia see Lesch-Nyhan syndrome
X-linked mental retardation and macroorchidism see fragile X syndrome
X-linked primary hyperuricemia see Lesch-Nyhan syndrome
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome

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