Schmitt Gillenwater Kelly syndrome
| Schmitt Gillenwater Kelly syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 179250 |
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 has an autosomal dominant pattern of inheritance.
References
- ↑ 1.0 1.1 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.
- ↑ Schmitt Gillenwater Kelly syndrome; Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema at NIH's Office of Rare Diseases
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