BOD syndrome

Disease Overview

BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.[6178]

Synonyms

• Brachymorphism-onychodysplasia-dysphalangism syndrome
• Brachymorphism onychodysplasia dysphalangism syndrome