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]

References

  1. ^ 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. 
  2. ^ Schmitt Gillenwater Kelly syndrome; Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema at NIH's Office of Rare Diseases
Appendicular
limb / dysmelia
Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation
Either / both
dactyly / digit:
reduction deficits / limb:
multiple joints:
Axial
other:

M: JNT

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)