Occipital horn syndrome
Occipital Horn Syndrome (pronunciation: ahk-sip-i-tl horn sin-drohm) is a rare genetic disorder that affects the connective tissues in the body. It is also known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa.
Etymology
The term "Occipital Horn Syndrome" is derived from the characteristic occipital horn, a bony protrusion at the base of the skull, which is a common feature in individuals with this condition. The term "syndrome" is used to describe a collection of symptoms that often occur together.
Symptoms
The symptoms of Occipital Horn Syndrome can vary greatly among individuals. They may include loose skin, particularly on the neck, face, and hands, and unusually shaped skull and facial features. Other symptoms may include muscle weakness, joint laxity, and bladder diverticula.
Causes
Occipital Horn Syndrome is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is essential for regulating copper in the body. The mutations that cause Occipital Horn Syndrome disrupt the normal function of this protein, leading to the symptoms of the disorder.
Diagnosis
Diagnosis of Occipital Horn Syndrome is based on a clinical examination, the presence of characteristic symptoms, and confirmed by genetic testing.
Treatment
There is currently no cure for Occipital Horn Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgery to correct skeletal abnormalities, and management of bladder diverticula.
See also
References
- National Organization for Rare Disorders. (n.d.). Occipital Horn Syndrome. Retrieved from https://rarediseases.org/rare-diseases/occipital-horn-syndrome/
- Genetics Home Reference. (n.d.). ATP7A gene. Retrieved from https://ghr.nlm.nih.gov/gene/ATP7A
External links
- Medical encyclopedia article on Occipital horn syndrome
- Wikipedia's article - Occipital horn syndrome
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