ICD-11 MMS

20 Developmental anomalies

Multiple developmental anomalies or syndromes  (LD20-LD2Z)

LD24 Syndromes with skeletal anomalies as a major feature

LD24.0 Syndromes with micromelia

LD24.03 Diastrophic dysplasia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


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)

synonyms

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