Hajdu-Cheney syndrome is an extremely rare congenital disorder of the connective tissue that is inherited in an autosomal dominant pattern. Its central feature is severe and excessive bone resorption, which leads to osteoporosis and can be accompanied by a wide range of other possible symptoms. The condition is also known as acroosteolysis with osteoporosis and changes in skull and mandible, as arthrodentoosteodysplasia and as Cheney syndrome. Mutations in the NOTCH2 gene, identified in 2011, cause it. The syndrome dates from 1948, and only about 50 cases had been reported worldwide when the source article was written, so the clinical picture is still being filled in. This entry records what is known about the condition and is not medical advice.
Facts
Classification
ICD-10 ChapterXIII: Diseases of the Musculoskeletal System and Connective Tissue 2 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Hajdu-Cheney syndrome (Wikipedia)
Lead section
since the discovery of the syndrome in 1948
Lead section [causative-agent-category]
Mutations in the NOTCH2 gene, identified in 2011, cause HCS.
Lead section [body-system]
severe and excessive bone resorption leading to osteoporosis
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:955 Hajdu-Cheney syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "M89.5", "Source": "ICD-10"
3. National Cancer Institute (NCI Thesaurus): Hajdu-Cheney syndrome - NCI Thesaurus concept C84745
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.
4. MedlinePlus Genetics (U.S. National Library of Medicine): Hajdu-Cheney syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
Hajdu-Cheney syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
5. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:955Quote, ORPHA:955
Point prevalence Class only <1 / 1 000 000
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