syndromic disease fibular aplasia-ectrodactyly syndrome https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/brachydactyly_ectrodactyly_with_fibular_aplasia_or_hypoplasia https://www.malacards.org/card/fibular_aplasia_ectrodactyly_syndrome fibular aplasia ectrodactyly MONDO:0007225 Orphanet:1118 UMLS:C1862100 GARD:0002331 Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. OMIM:113310 MEDGEN:396290 MESH:C537930 skeletal dysplasia dysostosis congenital limb malformation