Congenital absence of thigh and lower leg with foot present

Orpha code: 294977OMIM code:

Definition

Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.

Disease data
Classification

Morphological anomaly

Synonyms
Femorotibiofibular intercalary transverse meromelia
Femorotibiofibular intercalary transverse meromelia
ORPHA code
294977
OMIM code
-
ICD10 code
Q72.1
ICD11 code
LB9A.3

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl