Congenital absence of upper arm and forearm with hand present

Orpha code: 294975OMIM code:

Definition

A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.

Disease data
Classification

Morphological anomaly

Synonyms
Humero-radio-ulnar intercalary transverse meromelia
Fokomelia
ORPHA code
294975
OMIM code
-
ICD10 code
Q71.1
ICD11 code
LB99.4

No additional description.

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