Hand-foot-uterus syndrome

Hand-foot-uterus syndrome (HFUS) is a rare genetic disorder characterized by abnormalities in the hands and feet, and uterine malformations. The syndrome is also known as Gollop-Wolfgang Complex.

Symptoms and Signs

The primary symptoms of Hand-foot-uterus syndrome include ectrodactyly, a condition where part or all of the central digits of the hand or foot are missing, and uterine malformation, which can lead to fertility issues. Other symptoms may include cleft lip or cleft palate, and syndactyly, a condition where two or more digits are fused together.

Causes

Hand-foot-uterus syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It is believed to be inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific gene associated with this syndrome has not yet been identified.

Diagnosis

Diagnosis of Hand-foot-uterus syndrome is typically based on the physical symptoms present in the individual. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation.

Treatment

Treatment for Hand-foot-uterus syndrome is symptomatic and supportive. This may include surgery to correct hand or foot abnormalities, and fertility treatment for individuals with uterine malformations. Genetic counseling may be beneficial for affected individuals and their families.

See also

• Genetic disorder
• Ectrodactyly
• Uterine malformation

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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