Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hajdu-Cheney syndrome is an extremely rare genetic connective tissue disorder characterized by progressive bone loss (acro-osteolysis), craniofacial abnormalities, and joint hypermobility. While receiving a diagnosis of Hajdu-Cheney syndrome can be overwhelming, management focuses on multidisciplinary care to address skeletal fragility, dental health, and potential cardiovascular or renal involvement. How should I build my medical care team? Because Hajdu-Cheney syndrome affects multiple systems, you need a coordinated team.
Which advice would you give to someone who has just been diagnosed with Hajdu-Cheney Syndrome?
Advice for the newly diagnosed with Hajdu-Cheney Syndrome, written by people who have lived it. What they wish they had known on day one.
Hajdu-Cheney syndrome is an extremely rare genetic connective tissue disorder characterized by progressive bone loss (acro-osteolysis), craniofacial abnormalities, and joint hypermobility. While receiving a diagnosis of Hajdu-Cheney syndrome can be overwhelming, management focuses on multidisciplinary care to address skeletal fragility, dental health, and potential cardiovascular or renal involvement.
How should I build my medical care team?
Because Hajdu-Cheney syndrome affects multiple systems, you need a coordinated team. Start with a clinical geneticist to confirm your diagnosis and a rheumatologist or endocrinologist to monitor bone mineral density. Given the specific bone changes seen in Hajdu-Cheney syndrome, you should also include a dentist or oral surgeon familiar with rare skeletal conditions, as dental issues are common.
How can I manage symptoms and daily life?
Living with Hajdu-Cheney syndrome requires proactive energy conservation and injury prevention. Focus on low-impact physical activity to maintain joint stability and work with an occupational therapist to modify your environment for comfort. Key management strategies include:
- Bone Health: Regular DEXA scans to monitor for osteoporosis.
- Dental Care: Routine monitoring for early tooth loss or periodontal disease.
- Pain Management: Working with a physical therapist to address chronic joint or bone pain.
- Cardiac Screening: Periodic echocardiograms, as some patients with Hajdu-Cheney syndrome may have cardiovascular risks.
Why is community support essential?
With only a few hundred cases reported worldwide, you may feel isolated. Connecting with the 5 members currently on DiseaseMaps.org who share your Hajdu-Cheney syndrome diagnosis can provide invaluable emotional support and practical tips for navigating life with this condition. Sharing experiences helps reduce the psychological burden of managing a rare disease.
Next steps
- Consult a geneticist to discuss the NOTCH2 gene mutation associated with Hajdu-Cheney syndrome.
- Join a patient support group or the DiseaseMaps community to connect with others.
- Check the NIH GARD website for updates on clinical trials and research registries.
- Keep a detailed symptom diary to share with your specialists during appointments.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases (GARD) Information Center: Hajdu-Cheney syndrome.
- Orphanet: Rare disease database entry for Hajdu-Cheney syndrome (ORPHA:399).
- OMIM (Online Mendelian Inheritance in Man): #102500 - Hajdu-Cheney Syndrome.
