Ectrodactyly dominant form

Ectrodactyly, Dominant Form is a rare genetic disorder characterized by the absence of one or more central digits on the hands and feet. This condition is also known as split hand/split foot malformation (SHFM) and is a type of ectrodactyly. The dominant form of ectrodactyly is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder.

Causes

The dominant form of ectrodactyly is caused by mutations in several genes, including DLX5, DLX6, and TP63. These genes play crucial roles in limb development during embryonic growth. Mutations in these genes disrupt the normal formation of the hands and feet, leading to the characteristic features of ectrodactyly.

Symptoms

Individuals with the dominant form of ectrodactyly typically exhibit missing central digits on the hands and/or feet, leading to a cleft or split appearance. The severity and specific pattern of the malformations can vary significantly among affected individuals. Some may have only minor abnormalities with no functional impairment, while others may have significant malformations that impair their ability to perform everyday tasks.

Diagnosis

Diagnosis of ectrodactyly, dominant form, is primarily based on physical examination and the characteristic appearance of the hands and feet. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Prenatal diagnosis may be available for families with a known history of the condition.

Treatment

Treatment for ectrodactyly, dominant form, is aimed at improving function and may include surgical intervention to reconstruct the hands and/or feet. Physical and occupational therapy can also be beneficial in helping individuals adapt to their physical limitations. In some cases, prosthetic devices may be used to assist with mobility and daily activities.

Prognosis

The prognosis for individuals with ectrodactyly, dominant form, varies depending on the severity of the limb malformations. With appropriate treatment and support, most individuals are able to lead active and productive lives.