Catalog

Rhizomelic chondrodysplasia punctata type 1

No MMS code

Link to WHO Definition

Rhizomelic chondrodysplasia punctata type 1 – http://id.who.int/icd/entity/44503513

This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.