Cheney syndrome
=Cheney Syndrome =
Cheney Syndrome, also known as Hajdu-Cheney Syndrome, is a rare genetic disorder characterized by distinctive skeletal abnormalities, particularly involving the bones of the skull and the digits. It is a progressive condition that can lead to significant physical deformities and other systemic complications.
History[edit | edit source]
Cheney Syndrome was first described in 1948 by Dr. Hajdu and Dr. Cheney, who identified the unique combination of symptoms in a series of patients. Since then, fewer than 100 cases have been documented in medical literature, making it an extremely rare condition.
Genetics[edit | edit source]
Cheney Syndrome is caused by mutations in the NOTCH2 gene, which plays a crucial role in bone development and maintenance. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder.
Clinical Features[edit | edit source]
The clinical presentation of Cheney Syndrome can vary widely among affected individuals, but common features include:
- Acroosteolysis: Resorption of the distal phalanges, leading to shortened fingers and toes.
- Craniofacial abnormalities: Including a prominent forehead, micrognathia (small jaw), and dental anomalies.
- Osteoporosis: Increased bone fragility and risk of fractures.
- Joint laxity: Hypermobile joints that can lead to dislocations.
- Cardiovascular anomalies: Such as heart defects and hypertension.
Diagnosis[edit | edit source]
Diagnosis of Cheney Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the NOTCH2 gene. Radiographic imaging is used to assess skeletal abnormalities.
Management[edit | edit source]
There is no cure for Cheney Syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:
- Orthopedic interventions: To address skeletal deformities and prevent fractures.
- Dental care: Regular monitoring and treatment of dental issues.
- Cardiovascular monitoring: Regular check-ups to manage heart-related complications.
Prognosis[edit | edit source]
The prognosis for individuals with Cheney Syndrome varies depending on the severity of symptoms and the presence of complications. Early diagnosis and comprehensive management can improve quality of life and outcomes.
Research[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms underlying Cheney Syndrome and exploring potential therapeutic targets. Advances in genetic research may lead to improved diagnostic and treatment options in the future.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Cheney syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
