Hajdu-Cheney Syndrome

Alternative Names

  • HJCYS
  • Acroosteolysis with Osteoporosis and Changes in Skull and Mandible
  • Cheney Syndrome
  • Arthrodentoosteodysplasia
  • Serpentine Fibula-Polycystic Kidney Syndrome
  • SFPKS
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WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

Osteopathies and chondropathies

OMIM Number

102500

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1p12

Description

Hajdu-Cheney syndrome is a very rare connective tissue disorder. To date, about 80 cases have been reported worldwide. Hajdu-Cheney syndrome is an autosomal dominant type of osteolytic disorders, characterized by short stature, acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Other symptoms may include joint laxity, premature loss of teeth, hearing loss, and a hoarse voice.

Diagnosis of Hajdu-Cheney syndrome is based on clinical and radiological examinations. There is no treatment for this syndrome, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide. Mutations in the NOTCH2 gene, located on chromosome 1p12 are the cause of Hajdu-Cheney syndrome.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Barakat et al. (1996) described a 14-year-old Saudi boy with Hajdu-Cheney syndrome. He was born to consanguineous parents and additionally presented with chronic renal failure.

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