ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 — Syndromes with skeletal anomalies as a major feature
LD24.0 — Syndromes with micromelia
LD24.03 — Diastrophic dysplasia
ICD-11 LD24.03 — Diastrophic dysplasia
Diastrophic dwarfism is a rare autosomal recessive disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Syndromes with micromelia #18736