Synpolydactyly

Synpolydactyly is a rare genetic disorder characterized by the fusion of digits (fingers or toes) and the presence of extra digits. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to their offspring. The severity and specific features of synpolydactyly can vary greatly among affected individuals.

Causes

Synpolydactyly is caused by mutations in the HOXD13 gene. This gene provides instructions for making a protein that is important for the development of the limbs, digits, and genitalia. Mutations in the HOXD13 gene disrupt the normal development of these structures, leading to the characteristic features of synpolydactyly.

Symptoms

The most common symptom of synpolydactyly is the presence of extra digits (polydactyly) that are fused to other digits (syndactyly). The extra digits are usually nonfunctional and may be partially or fully fused to the adjacent normal digit. The fusion of digits can occur on the hands, feet, or both. Other symptoms can include abnormal bone growth in the hands and feet, and in severe cases, abnormalities of the genitalia.

Diagnosis

Diagnosis of synpolydactyly is based on a physical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the HOXD13 gene.

Treatment

Treatment for synpolydactyly typically involves surgery to separate the fused digits and remove the extra digits. Physical therapy may also be recommended to improve hand and foot function. Genetic counseling may be beneficial for affected individuals and their families.

See also

• Polydactyly
• Syndactyly
• HOXD13

Synpolydactyly Resources
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