Chondrodystrophic myotonia (Q41391)
From determinar.ia.br - Determine suas informações
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) is a congenital myotonic syndrome characterised by myotonia that results in a characteristic facies with blepharophimosis and a puckered facial appearance, and osteoarticular abnormalities leading to limited joint mobility.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8C71.1 |
||
| English | Chondrodystrophic myotonia |
Chondrodystrophic myotonia (Schwartz-Jampel syndrome) is a congenital myotonic syndrome characterised by myotonia that results in a characteristic facies with blepharophimosis and a puckered facial appearance, and osteoarticular abnormalities leading to limited joint mobility. |
