LD24.03

ICD-11 MMS 2026-01

Diastrophic dysplasia

Description

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)

Index terms

  • Diastrophic dysplasia
  • Diastrophic dwarfism
  • De la Chapelle dysplasia
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  • Atelosteogenesis type 2

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD24.00 – Achondroplasia
  • LD24.01 – Hypochondroplasia
  • LD24.02 – Thanatophoric dysplasia
  • LD24.04 – Chondrodysplasia punctata
  • LD24.0Y – Other specified syndromes with micromelia
  • LD24.0Z – Syndromes with micromelia, unspecified

Foundation entity

Diastrophic dysplasia – http://id.who.int/icd/entity/1681550532

Part of: LD24.0: Syndromes with micromelia › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies