Schmitt Gillenwater Kelly syndrome

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

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


References
  1. 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






Classification
External resources


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