Diastrophic dysplasia

Orpha code: 628OMIM code: 222600

Definition

A rare 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).

Disease data
Classification

Disease

Synonyms
Diastrophic dwarfism
Dysplazja diastroficzna
ORPHA code
628
OMIM code
222600
ICD10 code
Q77.5
ICD11 code
LD24.03

No additional description.

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