Brachydactyly-elbow wrist dysplasia syndrome

Orpha code: 1275OMIM code: 186550

Definition

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
Classification

Malformation syndrome

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

No additional description.

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