Hajdu–Cheney syndrome
| Hajdu–Cheney syndrome | |
|---|---|
| Other names | Acrodentoosteodysplasia, Arthrodentoosteodysplasia |
| Hajdu-Cheney | |
| Specialty | Rheumatology, medical genetics |
Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome,[1] is an extremely rare autosomal dominant congenital disorder[2][3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948[4]
- ^ Online Mendelian Inheritance in Man (OMIM): Hajdu-Cheney Syndrome; HJCYS - 102500
- ^ Crifasi PA, Patterson MC, Bonde D, Michels VV (June 1997). "Severe Hajdu-Cheney syndrome with upper airway obstruction". American Journal of Medical Genetics. 70 (3): 261–6. doi:10.1002/(SICI)1096-8628(19970613)70:3<261::AID-AJMG9>3.0.CO;2-Z. PMID 9188663.
- ^ Brennan AM, Pauli RM (May 2001). "Hajdu--Cheney syndrome: evolution of phenotype and clinical problems". American Journal of Medical Genetics. 100 (4): 292–310. doi:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4. PMID 11343321.
- ^ Cortés-Martín J, Díaz-Rodríguez L, Piqueras-Sola B, Rodríguez-Blanque R, Bermejo-Fernández A, Sánchez-García JC (August 2020). "Hajdu-Cheney Syndrome: A Systematic Review of the Literature". International Journal of Environmental Research and Public Health. 17 (17): 6174. doi:10.3390/ijerph17176174. PMC 7504254. PMID 32854429.