Синдром гіпоплазії променевої кістки - трифалангових великих пальців - гіпоспадії - щелепної діастеми

Визначення(English summary)

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.