Split hand split foot X linked

Split hand/split foot malformation X-linked (SHFMX) is a rare genetic disorder characterized by the malformation of the limbs, specifically the hands and feet. This condition is also known as ectrodactyly, and it can vary greatly in severity among affected individuals. The malformations can range from mild webbing of fingers or toes to more severe manifestations such as the absence of digits or the "splitting" of the hands and/or feet, giving the condition its name. SHFMX is caused by mutations in genes located on the X chromosome, which explains its X-linked pattern of inheritance.

Genetics

SHFMX is inherited in an X-linked dominant fashion. This means that the condition can be passed on by an affected mother or father to their children. In the case of an affected father passing the gene to his daughters, they will inherit the condition, while sons cannot inherit the condition from their father due to the X-linked inheritance pattern. Mutations in specific genes on the X chromosome are responsible for the development of SHFMX, but the exact genes involved can vary among affected individuals.

Symptoms

The primary symptoms of SHFMX are the malformations of the hands and feet. These can include:

• Missing digits (oligodactyly)
• Webbed or fused digits (syndactyly)
• Longitudinal splitting of the hands and/or feet (ectrodactyly)
• Malformation or absence of the middle bones of the hand or foot

In addition to limb abnormalities, some individuals with SHFMX may have other associated anomalies, including hearing loss, craniofacial abnormalities, and, in rare cases, intellectual disability. However, the presence and severity of these additional symptoms can vary widely.

Diagnosis

Diagnosis of SHFMX is primarily based on the physical examination of the limb malformations. Genetic testing can confirm the diagnosis by identifying mutations in the X chromosome that are known to cause the condition. Prenatal diagnosis is also possible through genetic testing if there is a known family history of SHFMX.

Treatment

There is no cure for SHFMX, and treatment focuses on managing the symptoms and improving the quality of life for affected individuals. Surgical interventions may be necessary to correct or improve hand and foot malformations, especially in cases where the abnormalities interfere with function. Physical and occupational therapy can also be beneficial in helping individuals adapt to their malformations and maintain mobility and function.

Prognosis

The prognosis for individuals with SHFMX varies depending on the severity of the limb malformations and any associated anomalies. With appropriate medical and surgical management, most individuals can lead active and productive lives.