Fibular aplasia-ectrodactyly syndrome

Orpha code: 1118OMIM code: 113310

Definition

A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.

Disease data
Classification

Malformation syndrome

ORPHA code
1118
OMIM code
113310
ICD10 code
Q73.8
ICD11 code
LD26.0

No additional description.

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