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Disease Achondroplasia

Name Achondroplasia
Synonyms ACH | Achondroplasias | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Dysplasia, SADDAN | Dysplasias, SADDAN | SADDAN | SADDAN Dysplasia | SADDAN Dysplasias | SADDANs | Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans | Skeleton Skin Brain Syndrome | Skeleton-Skin-Brain Syndrome | Skeleton-Skin-Brain Syndromes | Syndrome, Skeleton-Skin-Brain | Syndromes, Skeleton-Skin-Brain
Definition An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Categories Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D000130
OMIM® IDs 100800 | 616482
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dwarfism Has associated chemicals Has associated genes Achondroplasia Has associated chemicals Has associated genes
2. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Achondroplasia Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Dwarfism Has associated chemicals Has associated genes Achondroplasia Has associated chemicals Has associated genes

Top ↑ Descendants

Achondroplasia Has associated chemicals Has associated genes
  Achondrogenesis type 1A Has associated chemicals Has associated genes
  Achondrogenesis type 1B Has associated chemicals Has associated genes
  Achondrogenesis type 2 Has associated chemicals Has associated genes
  Achondrogenesis, type 3
  Achondrogenesis, type 4
  Achondroplasia and Swiss type agammaglobulinemia
  Achondroplastic dwarfism
  Baby rattle pelvic dysplasia
  Dyssegmental dysplasia, Rolland-Desbuquois type
  Pseudoachondroplasia Has associated chemicals Has associated genes
  Pseudoachondroplastic dysplasia 2
  Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
View node Thanatophoric Dysplasia Has associated chemicals Has associated genes