Bowen-Conradi Syndrome

Overview

Type of disease: Rare conditions

Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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