Schmitt Gillenwater Kelly syndrome
| Schmitt Gillenwater Kelly syndrome | |
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| Other names | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
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| 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 , triphalangeal thumbs, hypospadias, and maxillary diastema.[1][2]
References[]
- ^ a b 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[]
| Classification | |
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| External resources |
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Categories:
- Congenital disorders of musculoskeletal system
- Autosomal dominant disorders
- Genetic disorders with OMIM but no gene
- Syndromes
- Rare diseases
- Genetic disorder stubs