Split hand split foot malformation autosomal reces

Split Hand/Split Foot Malformation (SHFM), also known as lobster-claw syndrome or ectrodactyly, is a rare genetic disorder characterized by the malformation of the hands and feet. The condition is notable for the absence of one or more central digits on the hands and/or feet, creating a split or cleft appearance. SHFM can vary greatly in severity and can occur in isolation or as part of a syndrome involving other organ systems.

Etiology

SHFM is caused by mutations in several genes, with inheritance patterns that can be autosomal dominant, autosomal recessive, or X-linked. The most common forms of SHFM are associated with mutations in the DLX5 and DLX6 genes, which play crucial roles in limb development. Other genes implicated in SHFM include TP63, FBXW4, and BHLHA9. Environmental factors, such as exposure to certain drugs or chemicals during pregnancy, have also been suggested to play a role in some cases, though genetic factors are predominant.

Clinical Features

The hallmark of SHFM is the malformation of the hands and feet, which can range from mild notching of the fingers or toes to complete absence of the central digits. The severity and specific pattern of the malformations can vary significantly, even among affected individuals within the same family. In some cases, SHFM may be associated with other anomalies, including hearing loss, craniofacial abnormalities, and genitourinary malformations.

Diagnosis

Diagnosis of SHFM is primarily based on physical examination and the characteristic appearance of the hands and feet. Prenatal ultrasound can sometimes detect the condition before birth. Genetic testing can confirm the diagnosis and help determine the mode of inheritance, which is important for genetic counseling.

Management

Management of SHFM focuses on improving function and appearance of the hands and feet, and may include surgical intervention, physical therapy, and the use of prosthetics or orthotics. The specific treatment plan depends on the severity of the malformations and the presence of any associated anomalies. Early intervention and a multidisciplinary approach are important for optimizing outcomes.

Prognosis

The prognosis for individuals with SHFM varies depending on the severity of the malformations and the presence of associated anomalies. With appropriate management, most individuals are able to lead active, productive lives.

Epidemiology

SHFM is a rare condition, though its exact prevalence is unknown. It affects males and females equally and can occur in any ethnic group.

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