ICD-11 definition : 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);
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)
Currated CISMeF NLP mapping