Brachydactyly-elbow wrist dysplasia syndrome

Orpha code: 1275OMIM code: 186550

Definicja

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Brachydactyly-joint dysplasia syndrome
Brachydaktylia - dysplazja stawów
Zespół Liebenberga
Liebenberg syndrome
Kod ORPHA
1275
Kod OMIM
186550
Kod ICD10
Q73.8
Kod ICD11
LD26.1

No additional description.

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