Rhizomelic chondrodysplasia punctata- type 2

Overview

A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.

Symptoms

Low nose bridge Broad nose bridge Anteverted nostrils Cataracts Short arms