NCIt related terms : Acrocephalosyndactyly Type V;
NCIt definition : An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations
in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between
the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly
in the hands and toes.;