Congenital absence of both forearm and hand

Orpha code: 294979OMIM code:

Definition

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
Classification

Morphological anomaly

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

No additional description.

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