Crossed polydactyly type 1
Crossed Polydactyly Type 1 is a rare genetic disorder characterized by the presence of extra fingers or toes on the hands and feet. This condition is a form of polydactyly, which refers to the occurrence of more than the usual number of digits on the hands or feet. Crossed Polydactyly Type 1 is distinguished by the fact that the extra digits are present on both the hands and the feet, a feature that differentiates it from other types of polydactyly where the extra digits may be confined to either the hands or the feet.
Causes and Genetics
Crossed Polydactyly Type 1 is caused by genetic mutations. The condition is inherited in an autosomal dominant pattern, which means that only one copy of the altered gene in each cell is sufficient to cause the disorder. The specific genes involved in Crossed Polydactyly Type 1 have not been fully identified, making the genetic basis of the condition an area of ongoing research.
Symptoms
Individuals with Crossed Polydactyly Type 1 typically exhibit the presence of extra digits on both hands and feet. The number and type of extra digits can vary among affected individuals. In some cases, the extra digits are fully formed and functional, while in others, they may be small and nonfunctional. The condition may also be associated with other skeletal abnormalities, although this is not always the case.
Diagnosis
Diagnosis of Crossed Polydactyly Type 1 is primarily based on physical examination and the observation of the characteristic extra digits on both hands and feet. Genetic testing may be helpful in confirming the diagnosis, especially in cases where the genetic cause is known.
Treatment
Treatment for Crossed Polydactyly Type 1 typically involves surgical removal of the extra digits. The goal of surgery is to improve the function and appearance of the hands and feet. In cases where the extra digits are functional, the decision to proceed with surgery may be more complex and will depend on various factors, including the individual's needs and preferences.
Prognosis
The prognosis for individuals with Crossed Polydactyly Type 1 is generally good, especially with appropriate surgical intervention. Most individuals are able to lead normal, active lives following treatment.
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Contributors: Prab R. Tumpati, MD