Chondrodysplasia- acromesomelic- with genital anomalies
Overview
The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.
Symptoms
shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton
Causes
patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B.