Chondrodystrophic myotonia (Q41391): Difference between revisions
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Revision as of 07:32, 13 August 2026
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 |
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| 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. |
