Chondrodystrophic myotonia (Q41391): Difference between revisions
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Miotonia condrodistrófica (síndrome de Schwartz-Jampel) é uma síndrome miotônica congênita caracterizada por miotonia que resulta em uma fácies característica com blefarofimose e uma aparência facial enrugada, e anormalidades osteoarticulares que levam à mobilidade articular limitada. | |||
| description / en | description / en | ||
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. | |||
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. |
