Hand–foot–uterus syndrome

Hand–foot–uterus syndrome is a rare genetic disorder characterized by abnormalities in the hands, feet, and uterus. The syndrome is also known as HFU syndrome and is believed to be inherited in an autosomal dominant manner.

Symptoms and Signs

The primary symptoms of Hand–foot–uterus syndrome include malformations of the hands and feet, and abnormalities in the uterus. The hand and foot abnormalities often involve syndactyly, or the fusion of two or more digits, and polydactyly, the presence of extra digits. Uterine abnormalities can include a bicornuate uterus, where the uterus has two horns and a heart shape, or a didelphic uterus, where the uterus is divided into two separate cavities.

Causes

The exact cause of Hand–foot–uterus syndrome is currently unknown. However, it is believed to be a genetic disorder, likely inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the disorder onto their offspring.

Diagnosis

Diagnosis of Hand–foot–uterus syndrome is typically based on the presence of the characteristic physical abnormalities. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation responsible.

Treatment

There is currently no cure for Hand–foot–uterus syndrome. Treatment is typically focused on managing the symptoms and may include surgery to correct hand and foot abnormalities, and fertility treatments for those with uterine abnormalities.

See Also

• Genetic disorder
• Syndactyly
• Polydactyly
• Bicornuate uterus
• Didelphic uterus

NIH genetic and rare disease info

• NIH info on Hand–foot–uterus syndrome

Hand–foot–uterus syndrome is a rare disease.

Hand–foot–uterus syndrome Resources
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