Chondrodystrophic myotonia

Description

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.

Index terms

Chondrodystrophic myotonia
Schwartz-Jampel syndrome

Exclusions from above levels

http://id.who.int/icd/entity/155258022 – Metabolic disorders
LD26.41 – Arthrogryposis multiplex congenita
05 – Endocrine, nutritional or metabolic diseases

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18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8C71.0 – Myotonic dystrophy
8C71.2 – Myotonia congenita
8C71.3 – Drug-induced myotonia
8C71.4 – Neuromyotonia
8C71.5 – Pseudomyotonia
8C71.Y – Other specified myotonic disorders
8C71.Z – Myotonic disorders, unspecified

Foundation entity

Chondrodystrophic myotonia – http://id.who.int/icd/entity/1725668060

Part of: 8C71: Myotonic disorders › 08: Diseases of the nervous system