Rhizomelic chondrodysplasia punctata

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Rhizomelic chondrodysplasia punctata
Classification and external resources
Specialty medical genetics
ICD-10 Q77.3
ICD-9-CM 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] The affected individuals have low levels of plasmalogens.[2]


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  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].
  2. ^ Abby Goodnough (September 6, 2015). "Flicker of Hope for Children With Rare and Devastating Disease". New York Times. Retrieved 2015-09-06.