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Kod Orpha: 294979Kod OMIM:

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.

Dane
Klasyfikacja

Wada morfologiczna

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

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