Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hajdu-Cheney syndrome is a rare genetic connective tissue disorder primarily known by its eponymous name, though it is sometimes referred to as acro-osteolysis with osteoporosis and skull changes. While older medical literature may use terms like "arthro-dento-osteo-dysplasia," Hajdu-Cheney syndrome is the universally accepted clinical designation in modern medical databases and research. What are the historical and alternative names for Hajdu-Cheney syndrome? Historically, Hajdu-Cheney syndrome was described using various descriptive terms based on the physical manifestations of the disease, such as acro-osteolysis (the resorption of the terminal phalanges) and severe osteoporosis.
Hajdu-Cheney Syndrome synonyms
Other names for Hajdu-Cheney Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Hajdu-Cheney syndrome is a rare genetic connective tissue disorder primarily known by its eponymous name, though it is sometimes referred to as acro-osteolysis with osteoporosis and skull changes. While older medical literature may use terms like "arthro-dento-osteo-dysplasia," Hajdu-Cheney syndrome is the universally accepted clinical designation in modern medical databases and research.
What are the historical and alternative names for Hajdu-Cheney syndrome?
Historically, Hajdu-Cheney syndrome was described using various descriptive terms based on the physical manifestations of the disease, such as acro-osteolysis (the resorption of the terminal phalanges) and severe osteoporosis. You may encounter the following synonyms in older medical records or international literature:
- Acro-osteolysis with osteoporosis and skull changes
- Arthro-dento-osteo-dysplasia
- Cheney syndrome
- Hajdu-Cheney acro-osteolysis
- Serpentine fibula-polycystic kidney syndrome (a related, distinct, yet sometimes confused differential)
Why does Hajdu-Cheney syndrome have multiple names?
The naming of Hajdu-Cheney syndrome reflects the history of its clinical identification. It was named after Nicholas Hajdu and William D. Cheney, who independently published case reports in 1948 and 1965, respectively. In the past, medical nomenclature often relied on describing the most prominent symptoms, leading to descriptive labels like "acro-osteolysis." However, as the underlying genetic cause—mutations in the NOTCH2 gene—became understood, Hajdu-Cheney syndrome became the preferred, standardized term to ensure clarity in research and clinical diagnosis.
How is the condition classified in medical databases?
To avoid confusion, medical professionals rely on official classification systems that link specific nomenclature to the genetic profile of Hajdu-Cheney syndrome:
- OMIM (Online Mendelian Inheritance in Man): #102500
- Orphanet: ORPHA:2118
- ICD-10/11: Often categorized under codes for rare hereditary osteodystrophies or specific skeletal dysplasias.
Next steps
- Discuss your specific diagnosis with a clinical geneticist to confirm if your records reflect the current Hajdu-Cheney syndrome terminology.
- Connect with the community at DiseaseMaps.org to share experiences with others living with this rare condition.
- Review your medical records to ensure that any historical synonyms are updated to the current official name for consistency across specialists.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified physician with any questions regarding a medical condition.
References
- National Institutes of Health (NIH) - Genetic and Rare Diseases Information Center (GARD).
- Orphanet: The portal for rare diseases and orphan drugs.
- Online Mendelian Inheritance in Man (OMIM): Entry #102500.
- PubMed/NCBI: Current clinical literature regarding NOTCH2-related disorders.
