Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - CISMeF
Brachydactyly-ectrodactyly with fibular aplasia or hypoplasiaOMIM Phenotype
Preferred Label : Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia
is a rare disorder that appears to be inherited in an autosomal dominant fashion with
reduced penetrance and variable expression (Evans et al., 2002). A form of fibular
hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been
reported (FATCO syndrome; 246570). Split-hand/foot malformation associated with tibial
hypoplasia/aplasia has also been described (see SHFLD1, 119100).;