Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal dominant
12q24.13
Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 156250.1 | Saudi Arabia | Female | Yes | Short stature; Depressed nasal bridge; A... Short stature; Depressed nasal bridge; Anteverted nares; Upslanted palpebral fissure  | NM_002834.5:c.1510A>G | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation |