Rhizomelic chondrodysplasia punctata

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Rhizomelic chondrodysplasia punctata
Classification and external resources
ICD-10 Q77.3
ICD-9 277.86
OMIM 215100 222765 600121
DiseasesDB 31410
MeSH D018902

Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.[1]

Types[edit]

See also[edit]

External links[edit]

References[edit]

  1. ^ Braverman, N.E., Moser AB, Steinberg, S.J. 2010. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Nov 16 [updated 2010 Mar 02].