Hajdu-Cheney syndrome

Serpentine fibula polycystic kidney syndrome, Acrodentoosteodysplasia, Acroosteolysis with osteoporosis and changes in skull and mandible, Arthrodentoosteodysplasia, Familial osteodysplasia

Overview

Type of disease: Rare conditions

Hajdu-Cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis.  Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence. This condition is inherited in an autosomal dominant fashion and caused by mutations in the NOTCH2 gene.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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