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Hajdu-Cheney Syndrome: A Systematic Review of the Literature

Jonathan Cortés-Martín1, Lourdes Díaz-Rodríguez2, Beatriz Piqueras-Sola1

  • 1Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain.

International Journal of Environmental Research and Public Health
|August 29, 2020
PubMed

Insights

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder affecting bones. This review synthesizes research on HCS, caused by NOTCH2 gene mutations, to guide future studies.

Area of Science:

  • Genetics
  • Rare Diseases
  • Skeletal Dysplasias

Background:

  • Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant genetic disorder.
  • It is characterized by acroosteolysis, generalized osteoporosis, and diverse skeletal abnormalities.
  • The NOTCH2 gene is associated with HCS, which has a complex and evolving clinical presentation.

Purpose of the Study:

  • To systematically review and evaluate existing research on Hajdu-Cheney syndrome.
  • To synthesize current knowledge regarding the genetic basis, clinical manifestations, and radiological findings of HCS.
  • To identify knowledge gaps and propose hypotheses for future research directions.

Main Methods:

  • A systematic literature search was conducted across Orphanet, PubMed, and Scielo databases.
  • Additional open-access articles were included to ensure comprehensive coverage.
  • The review followed PRISMA guidelines and was registered with PROSPERO (CRD42020164377).

Main Results:

  • Seventy-six articles were included in the final analysis.
  • The review identified numerous clinical and radiological manifestations associated with HCS.
  • Analysis of the literature provided a basis for generating hypotheses for further investigation.

Conclusions:

  • Current research on Hajdu-Cheney syndrome is limited, with fewer than 50 cases reported.
  • No definitive curative treatment for HCS currently exists.
  • The synthesized findings and generated hypotheses will inform and direct future research efforts for HCS.

Keywords:
Hajdu–Cheney syndromeNOTCH2acroosteolysisconnective tissuerare diseasesreceptor

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