Congenital absence of thigh and lower leg with foot present

Orpha code: 294977OMIM code:

Definicja

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
Klasyfikacja

Morphological anomaly

Synonimy
Femorotibiofibular intercalary transverse meromelia
Femorotibiofibular intercalary transverse meromelia
Kod ORPHA
294977
Kod OMIM
-
Kod ICD10
Q72.1
Kod ICD11
LB9A.3

No additional description.

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