Rhizomelic chondrodysplasia punctata

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]

Contents

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

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/



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