Brachydactyly Type E

Overview

Type of disease: Rare conditions

Brachydactyly type E (BDE) is a rare set of birth defects, or a syndrome. This syndrome is characterized by shortened metacarpals (bones of the hand, located between the fingers and the wrist) and distal phalanges (bones in the tips of the fingers). Occasionally some of the bones in the feet or toes are shorter than normal as well, and individuals with this condition are usually short in stature. Brachydactyly type E (BDE) is autosomal dominant, meaning that it is passed from parents to their children and that if one of the parents has the disorder, there is a 50% chance the child will have it too. Treatment varies depending on the patient’s specific birth defects.

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