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

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

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

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

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

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

• Genetic disorder
• Congenital disorder
• Bone disease
• Cardiovascular disease

References

Hajdu–Cheney syndrome Resources
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