Meyenburg–Altherr–Uehlinger syndrome

Meyenburg–Altherr–Uehlinger syndrome is a rare genetic disorder characterized by microcephaly, intellectual disability, and growth retardation. It was first described by the Swiss physicians Meyenburg, Altherr, and Uehlinger in 1968.

Symptoms and Signs

The most common symptoms of Meyenburg–Altherr–Uehlinger syndrome include microcephaly, which is a condition where the head is significantly smaller than normal due to a problem with brain development. Other symptoms include intellectual disability, which affects learning and cognitive abilities, and growth retardation, which results in a slower than normal growth rate.

Causes

Meyenburg–Altherr–Uehlinger syndrome is a genetic disorder, which means it is caused by abnormalities in the genes. However, the exact genetic cause of this syndrome is currently unknown. It is thought to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene for a child to be affected.

Diagnosis

Diagnosis of Meyenburg–Altherr–Uehlinger syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation.

Treatment

There is currently no cure for Meyenburg–Altherr–Uehlinger syndrome. Treatment is supportive and focuses on managing the symptoms. This may include physical therapy, special education, and other supportive services.

Prognosis

The prognosis for individuals with Meyenburg–Altherr–Uehlinger syndrome varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have a reduced lifespan due to complications associated with the syndrome.

See also

• List of genetic disorders
• Microcephaly
• Intellectual disability
• Growth retardation

NIH genetic and rare disease info

• NIH info on Meyenburg–Altherr–Uehlinger syndrome

Meyenburg–Altherr–Uehlinger syndrome is a rare disease.

Meyenburg–Altherr–Uehlinger syndrome Resources
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