ICD-11 classes
09 Diseases of the visual system
Strabismus or ocular motility disorders
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C71 — Myotonic disorders
8C71.1 — Chondrodystrophic myotonia
ICD-11 8C71.1 — 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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Myotonic disorders #7465