The following information may help to address your question:
What is Allan-Herndon-Dudley syndrome?
Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe
intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have speech and a limited ability to communicate, they seem to enjoy interaction with others. Allan-Herndon-Dudley syndrome is caused by
mutations in the
SLC16A2 gene. It is
inherited in an
X-linked recessive manner.
[1]
Last updated: 6/12/2014
Is cleft lip and/or palate frequently found in people with Allan-Herndon-Dudley syndrome?
No. We were unable to find any reports of cleft lip and/or palate in people affected by Allan-Herndon-Dudley syndrome.
Last updated: 6/12/2014
What are the symptoms of Allan-Herndon-Dudley syndrome?
Allan-Herndon-Dudley syndrome causes moderate to severe intellectual disability and problems with movement. People with this syndrome also have impaired speech and a limited ability to communicate. Most children have weak muscle tone (
hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they often develop joint deformities called
contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (
spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and use a wheelchair in adulthood.
[1]
Last updated: 6/12/2014
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GARD Information Specialist
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