Which are the symptoms of Hajdu-Cheney Syndrome?

Hajdu-Cheney syndrome is a rare multisystem disorder characterized primarily by acro-osteolysis (progressive bone resorption of the distal phalanges), severe osteoporosis, and distinctive craniofacial features. Symptoms typically emerge in childhood or early adulthood, varying significantly in severity even among family members with the same genetic mutation.

What are the most common symptoms of Hajdu-Cheney syndrome?

The clinical presentation of Hajdu-Cheney syndrome is highly variable, but it is primarily defined by skeletal abnormalities. Patients often experience premature tooth loss, a short stature, and joint hypermobility. The hallmark sign, acro-osteolysis, leads to the shortening and clubbing of the fingers and toes due to the progressive dissolution of the terminal bone segments.

What are the early warning signs to watch for?

Early indicators that may suggest Hajdu-Cheney syndrome include distinct facial features, such as low-set ears, a high forehead, and a broad nasal bridge. Parents should monitor for the following developmental and physical markers:

• Delayed eruption of primary teeth or premature loss of permanent teeth.


• Recurrent fractures or signs of early-onset osteoporosis.


• Persistent joint laxity or frequent dislocations.


• Hearing loss or recurrent ear infections, which are commonly reported in those with Hajdu-Cheney syndrome.

How does the condition impact daily quality of life?

For the 5 members of our Hajdu-Cheney syndrome community at DiseaseMaps.org, the most significant challenges involve chronic pain from skeletal fragility and the functional limitations caused by finger shortening. As Hajdu-Cheney syndrome progresses, the increased risk of spinal compression and vertebral fractures can significantly impact mobility and independence, necessitating a multidisciplinary approach to pain management and physical therapy.

When should I seek immediate medical attention?

Patients with Hajdu-Cheney syndrome should seek urgent care if they experience sudden, severe back pain or neurological deficits, which may indicate a vertebral fracture or spinal cord compression. Given the cardiovascular risks associated with the disorder, any unexplained shortness of breath or chest pain should also be evaluated promptly by a specialist.

Next steps

• Consult with a clinical geneticist to confirm the diagnosis via NOTCH2 gene testing.


• Schedule regular evaluations with a rheumatologist or endocrinologist to manage bone density.


• Join the Hajdu-Cheney syndrome community on DiseaseMaps.org to connect with others sharing similar experiences.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: Rare Disease Database (ORPHA:93922)


• Online Mendelian Inheritance in Man (OMIM #102500)