Polysyndactyly overgrowth syndrome

Polysyndactyly Overgrowth Syndrome is a rare genetic disorder characterized by the presence of polysyndactyly (the combination of polydactyly, having extra fingers or toes, and syndactyly, the fusion of two or more fingers or toes) and overgrowth, meaning affected individuals may have larger body parts or may be taller than expected for their age. This condition falls under the broader category of congenital anomalies of the limbs, which can affect the development and appearance of the arms and legs.

Symptoms and Characteristics

The primary features of Polysyndactyly Overgrowth Syndrome include:

• Polysyndactyly: The presence of both extra digits (polydactyly) and webbed or fused digits (syndactyly). This can occur in the hands, the feet, or both.
• Overgrowth: Individuals with this syndrome may experience overgrowth of limbs, leading to asymmetry or a larger overall size than would be expected for their age.
• Variable Expressivity: The symptoms can vary significantly from person to person, even among those within the same family who have the syndrome.

Genetics

Polysyndactyly Overgrowth Syndrome is believed to be genetic, though the specific genes involved may vary and in some cases have not been fully identified. It can follow an autosomal dominant inheritance pattern, where only one copy of the altered gene in each cell is sufficient to cause the disorder. However, cases have been reported where the inheritance pattern is less clear, suggesting the possibility of new mutations or complex genetic mechanisms.

Diagnosis

Diagnosis of Polysyndactyly Overgrowth Syndrome is primarily based on physical examination and the observation of characteristic symptoms. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, especially in families where the genetic cause has been identified.

Treatment

Treatment for Polysyndactyly Overgrowth Syndrome is symptomatic and supportive. Surgical interventions may be necessary to separate fused digits or to remove extra digits. In cases of significant overgrowth, surgery may also be required to correct or reduce the size of overgrown limbs or digits. Physical therapy and other supportive treatments may help improve function and mobility.

Prognosis

The prognosis for individuals with Polysyndactyly Overgrowth Syndrome varies depending on the severity of the symptoms and the success of treatment interventions. With appropriate care, most individuals can lead active and healthy lives.

See Also

• Congenital Anomalies
• Polydactyly
• Syndactyly
• Genetic Disorders