Occipital horn syndrome

Blood analysis of levels and behavior of copper, ceruloplasm, & catecholamines can indicate occipital horn syndrome. Individuals with OHS have low levels (concentration) of copper in the blood (between 40-80 µg/dL) and a low concentration of ceruloplasmin (between 110-240 mg/L). Lab Tests Online, a resource of the American Association for Clinical Chemisty provides additional information about copper testing and ceruloplasm testing.

GeneTests lists laboratories offering clinical genetic testing for occipital horn syndrome. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children.

The main differences between clinical genetic testing and research testing are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, and advancing our understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers. Clinical testing, on the other hand, is done to find out about an inherited disorder in an individual patient or family. People receive the results of a clinical test and can use them to help them make decisions about medical care or reproductive issues.

It is important for people considering genetic testing to know whether the test is available on a clinical or research basis. Clinical and research testing both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.