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Hajdu-Cheney syndrome
Serpentine fibula polycystic kidney syndromeAcrodentoosteodysplasiaAcroosteolysis with osteoporosis and changes in skull and mandibleArthrodentoosteodysplasiaFamilial osteodysplasia
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Overview
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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Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
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