Hajdu-Cheney Syndrome

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Xu, C. Hajdu-Cheney Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4068 (accessed on 27 September 2026).

Xu C. Hajdu-Cheney Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4068. Accessed September 27, 2026.

Xu, Camila. "Hajdu-Cheney Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4068 (accessed September 27, 2026).

Xu, C. (2020, December 23). Hajdu-Cheney Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4068

Xu, Camila. "Hajdu-Cheney Syndrome." Encyclopedia. Web. 23 December, 2020.

Hajdu-Cheney Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome

Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones.

genetic conditions

References

Brennan AM, Pauli RM. Hajdu--Cheney syndrome: evolution of phenotype andclinical problems. Am J Med Genet. 2001 May 15;100(4):292-310. Review.
Canalis E, Zanotti S. Hajdu-Cheney syndrome: a review. Orphanet J Rare Dis.2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. Review.
Gray MJ, Kim CA, Bertola DR, Arantes PR, Stewart H, Simpson MA, Irving MD,Robertson SP. Serpentine fibula polycystic kidney syndrome is part of thephenotypic spectrum of Hajdu-Cheney syndrome. Eur J Hum Genet. 2012Jan;20(1):122-4. doi: 10.1038/ejhg.2011.125.
Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S,Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar6;43(4):306-8. doi: 10.1038/ng.778.
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP,Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE CanadaConsortium, Michaud JL, Samuels ME. Mutations in NOTCH2 in families withHajdu-Cheney syndrome. Hum Mutat. 2011 Oct;32(10):1114-7. doi:10.1002/humu.21546.
Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T,Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G. Clinicalconsequences in truncating mutations in exon 34 of NOTCH2: report of six patientswith Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidneysyndrome. Am J Med Genet A. 2013 Mar;161A(3):518-26. doi: 10.1002/ajmg.a.35772.
Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S,Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA,Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Mutations in NOTCH2cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779.
Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, MannstadtM. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporos Int.2013 Aug;24(8):2275-81. doi: 10.1007/s00198-013-2298-5.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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