Catalog

Rhizomelic chondrodysplasia punctata type 2

No MMS code

Link to WHO Definition

Rhizomelic chondrodysplasia punctata type 2 – http://id.who.int/icd/entity/179969811

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 2 (RCDP2) is associated with DHAPAT mutations.