Catalog

Rhizomelic chondrodysplasia punctata type 3

No MMS code

Link to WHO Definition

Rhizomelic chondrodysplasia punctata type 3 – http://id.who.int/icd/entity/110878063

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 3 (RCDP3) is associated with AGPS mutations.