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 names | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
Schmitt Gillenwater Kelly syndrome has an autosomal dominant pattern of inheritance. |
References
- 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.
- Schmitt Gillenwater Kelly syndrome; Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema at NIH's Office of Rare Diseases
External links
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.