Congenital absence of both lower leg and foot

Orpha code: 294981OMIM code:

Definition

Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.

Disease data
Classification

Morphological anomaly

Synonyms
Tibiofibular terminal transverse meromelia
Tibiofibular terminal transverse meromelia
ORPHA code
294981
OMIM code
-
ICD10 code
Q72.2
ICD11 code
LB9A.7

No additional description.

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