Rhizomelic chondrodysplasia punctata
| 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]
Types
- Type 1 (RCDP1) is associated with PEX7 mutations . These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
- Type 2 (RCDP2) is associated with DHAPAT mutations
- Type 3 (RCDP3) is associated with AGPS mutations
See also
External links
References
- ↑ 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].
- ↑ Abby Goodnough (September 6, 2015). "Flicker of Hope for Children With Rare and Devastating Disease". New York Times. Retrieved 2015-09-06.
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