Congenital absence of both forearm and hand

Orpha code: 294979OMIM code:

Definicja

Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.

Disease data
Klasyfikacja

Morphological anomaly

Synonimy
Radio-ulnar terminal transverse meromelia
Radio-ulnar terminal transverse meromelia
Kod ORPHA
294979
Kod OMIM
-
Kod ICD10
Q71.2
Kod ICD11
LB99.5

No additional description.

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