Hunter-McAlpine syndrome

What causes Hunter-McAlpine syndrome?

Hunter-McAlpine syndrome is a genetic condition, meaning that it is caused by changes in a person’s genes. Each cell in our bodies contains 23 pairs of chromosomes for a total of 46 chromosomes in each cell. These chromosomes are packets of genetic information. People affected by Hunter-McAlpine syndrome have a duplication of part of chromosome 5. This duplication results in extra genetic information and causes the symptoms associated with Hunter-McAlpine syndrome.

Last updated on 05-01-20

How is Hunter-McAlpine syndrome diagnosed?

Hunter-McAlpine syndrome is diagnosed by a clinical evaluation and genetic testing. If the genetic test shows that there is a duplication of a specific part of chromosome 5, this confirms the diagnosis of Hunter-McAlpine syndrome. The doctor may also suggest testing other members of the family. Any siblings might be tested to see if they are affected as well, and parents might be tested to better understand the chance that any future children may be affected with the condition.

Last updated on 05-01-20

How is Hunter-McAlpine syndrome inherited?

Researchers believe that Hunter-McAlpine syndrome is inherited in an autosomal dominant manner. This means that any child of a person with Hunter-McAlpine syndrome has a 50% chance of having the condition themselves. Although the condition is very rare, researchers believe that most cases of Hunter-McAlpine syndrome are caused either by a new genetic change in the affected individual (de novo mutation), or through a parent who has balanced translocation. In this case, the parent has all of the necessary genetic material, but it has been rearranged. When this rearranged information is passed down to their child, the child can end up with a duplication of chromosome 5.

Last updated on 05-01-20

What is the long-term outlook for people affected by Hunter-McAlpine syndrome?

There have only been a few dozen reported cases of Hunter-McAlpine syndrome, so the long-term outlook, or prognosis, for people affected by the condition can be difficult to predict. Some individuals with the condition have been reported to live at least into their late 60s. Although most people with Hunter-McAlpine syndrome typically cannot live alone, with proper support they can live in a group home successfully.

Last updated on 05-01-20


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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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