Diastrophic Dysplasia

Overview

Type of disease: Rare conditions

Diastrophic dysplasia is a rare disorder present at birth and is inherited as an autosomal recessive trait. Diastrophic dysplasia is characterized by short stature with very short arms and legs, abnormal bone development, swelling of the external ears in infants, and progressive curvature of the spine (scoliosis). Symptoms of atypical bone and joint development may limit movement and make it difficult to walk. These symptoms tend to worsen with age. In infants, fingers may be abnormally short and joints between bones may become fused together. Symptoms in infants may also include foot deformities. Approximately 1 in 100,000 newborns are diagnosed with diastrophic dysplasia.

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