An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.
We describe a family in which eight persons (three males, five females) in three generations had a syndrome of bilateral and strikingly symmetrical triphalangeal thumbs and radial hypoplasia. The affected males also had a first-degree hypospadias and all affected family members had an anterior maxillary diastema. The syndrome was inherited in an autosomal dominant fashion.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D008437:Maxilla / Q000002:abnormalities*; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*