" /> Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - CISMeF





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).;

Inheritance : Autosomal dominant;

Prefixed ID : 113310;

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28/04/2025


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