Hajdu–Cheney syndrome
Hajdu–Cheney syndrome is a rare, autosomal dominant, congenital disorder characterized by severe and progressive bone loss. The most common symptoms include craniofacial anomalies, short stature, and acro-osteolysis (resorption of the distal phalanges). The syndrome is also associated with cardiovascular issues, such as valvular heart disease and aneurysms.
Signs and Symptoms[edit | edit source]
Hajdu–Cheney syndrome presents with a variety of symptoms, the most common of which are craniofacial anomalies, short stature, and acro-osteolysis. Other symptoms may include:
- Platybasia (flattening of the skull base)
- Wormian bones (extra bone pieces within the sutures of the skull)
- Micrognathia (undersized jaw)
- Dental anomalies
- Hearing loss
- Short stature
- Joint laxity and hypermobility
- Osteoporosis and fractures
- Cardiovascular disease, including valvular heart disease and aneurysms
Causes[edit | edit source]
Hajdu–Cheney syndrome is caused by mutations in the NOTCH2 gene. This gene provides instructions for making a protein that helps control the development and function of many types of cells, including those involved in bone formation.
Diagnosis[edit | edit source]
Diagnosis of Hajdu–Cheney syndrome is based on clinical evaluation, detailed patient history, identification of characteristic symptoms, and a variety of specialized tests. These tests may include X-rays, CT scan, MRI, and genetic testing.
Treatment[edit | edit source]
There is no cure for Hajdu–Cheney syndrome. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and surgical interventions for severe bone deformities.
Prognosis[edit | edit source]
The prognosis for individuals with Hajdu–Cheney syndrome varies. Some individuals have a normal lifespan with mild symptoms, while others may have severe complications such as spinal cord compression and heart disease.
See Also[edit | edit source]
References[edit | edit source]
Hajdu–Cheney syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD