Rhizomelic chondrodysplasia punctata

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 congential cataracts.^[1]

Types

• Type 1 (RCDP1) is associated with PEX7 mutations^{[citation needed]}. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
• Type 2 (RCDP2) is associated with DHAPAT mutations^{[citation needed]}
• Type 3 (RCDP3) is associated with AGPS mutations^{[citation needed]}

Additional sources of information

• Rhizo Kids^[2]

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. ^ http://www.rhizomelicchondrodysplasiapunctata.com/