Schmitt Gillenwater Kelly syndrome

Schmitt Gillenwater Kelly syndrome
Other namesRadial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Schmitt Gillenwater Kelly syndrome has an autosomal dominant pattern of inheritance.

Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant[1] congenital disorder consisting of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.[1][2]

References

  1. 1 2 Schmitt E, Gillenwater JY, Kelly TE (1982). "An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema". Am. J. Med. Genet. 13 (1): 63–69. doi:10.1002/ajmg.1320130111. PMID 7137222.
  2. Schmitt Gillenwater Kelly syndrome; Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema at NIH's Office of Rare Diseases


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