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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

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

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