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 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.
↑ Schmitt Gillenwater Kelly syndrome; Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema at NIH's Office of Rare Diseases

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome

hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara

knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation

foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb

reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia

multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly

Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome

other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

ribs:	Cervical Bifid

sternum:	Pectus excavatum Pectus carinatum

This article is issued from Wikipedia - version of the 5/27/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.