| Entry |
|
|---|
| Name |
Metatropic dysplasia |
|---|
| Description |
Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.
|
|---|
| Category |
Congenital malformation
|
|---|
| Brite |
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of the musculoskeletal system
H02184 Metatropic dysplasia
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02184 Metatropic dysplasia
|
|---|
| Gene |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH |
|---|
| Title |
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
|
