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

• List of radiographic findings associated with cutaneous conditions

External links

• GeneReviews/NCBI/NIH/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1

References

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.