Causes And Types Of Dwarfism

Diastrophic Dysplasia

Also known as diastrophic dwarfism (DTD), diastrophic dysplasia is a congenital condition that affects bone development and cartilage. Individuals with DTD are born with short stature and very short legs and arms. The condition is also characterized by scoliosis, or a progressive spinal curvature and a clubfoot with upward-turning toes. About half of individuals with diastrophic dwarfism are born with a cleft palate, and many have swollen ears at birth that can develop in thickened ears.

Diastrophic dwarfism is a recessively inherited disorder. For a child to have DTD, they must inherit a copy of the mutated gene from each parent. Individuals with diastrophic dwarfism usually have children unaffected by the disorder. About one out of every 100,000 births is affected by diastrophic dwarfism.