Polysyndactyly type Haas

Polysyndactyly type Haas is a rare genetic disorder characterized by the presence of both polydactyly (extra digits) and syndactyly (webbed or fused digits) in the hands and feet. This condition is a specific form of syndactyly, which can vary significantly in its presentation, ranging from mild webbing of the skin between digits to the fusion of bones. Polysyndactyly type Haas is distinguished by its unique combination of these features, affecting the development of the limbs during embryonic growth.

Causes

Polysyndactyly type Haas is caused by genetic mutations. The exact genetic mutation responsible for this condition has not been fully identified, but it is believed to be inherited in an autosomal dominant manner. This means that only one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an individual with Polysyndactyly type Haas may have inherited the mutation from an affected parent. In other cases, the condition may result from a new mutation in the gene and occur in people with no history of the disorder in their family.

Symptoms

The primary symptoms of Polysyndactyly type Haas are the presence of extra digits (polydactyly) and the webbing or fusion of fingers or toes (syndactyly). The severity and specific characteristics of these symptoms can vary widely among affected individuals. Some may have only minor webbing between two digits, while others may have several extra digits that are fully formed or partially fused.

Diagnosis

Diagnosis of Polysyndactyly type Haas typically involves a physical examination and a review of the patient's medical and family history. Imaging tests, such as X-rays, can be used to assess the extent of bone fusion and the presence of extra digits. Genetic testing may also be conducted to identify mutations associated with the condition, although the specific gene mutation responsible for Polysyndactyly type Haas has not been clearly identified.

Treatment

Treatment for Polysyndactyly type Haas is aimed at improving function and appearance of the affected limbs and may involve surgery to separate fused digits or to remove extra digits. The specific approach to surgery will depend on the individual's symptoms and the complexity of their condition. Physical therapy may also be recommended to improve mobility and function of the hands and feet after surgery.

Prognosis

The prognosis for individuals with Polysyndactyly type Haas varies depending on the severity of the condition and the success of surgical interventions. With appropriate treatment, most individuals are able to achieve good functional outcomes and lead normal, active lives.

Polysyndactyly type Haas Resources
Latest articles Most recent articles Ongoing trials	Wikipedia