Split hand syndrome

Split Hand Syndrome

Split hand syndrome (pronunciation: /splɪt hænd sɪndroʊm/), also known as Split hand/foot malformation (SHFM), is a type of congenital disorder that affects the development of the limbs.

Etymology

The term "split hand" refers to the characteristic appearance of the hands in affected individuals, where the middle digits are often missing or underdeveloped, giving the hand a split or lobster-claw like appearance. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Definition

Split hand syndrome is a rare genetic disorder characterized by the malformation or absence of the central digits of the hand or foot. This condition can occur on its own or as part of a genetic syndrome. The severity and exact form of the malformations can vary widely among affected individuals.

Symptoms

The primary symptom of split hand syndrome is the malformation or absence of the central digits of the hand or foot. This can result in a hand that appears to be split or divided, often described as a "lobster-claw" deformity. Other symptoms can include syndactyly (fusion of digits), polydactyly (extra digits), and ectrodactyly (absence of digits).

Causes

Split hand syndrome is caused by mutations in several different genes, including the DLX5, DLX6, and SHFM1 genes. These genes are involved in the development of the limbs during embryogenesis.

Treatment

Treatment for split hand syndrome is primarily supportive and may include physical therapy, occupational therapy, and in some cases, surgical intervention to improve function and appearance.

Related Terms

• Congenital disorder
• Syndactyly
• Polydactyly
• Ectrodactyly
• Embryogenesis

External links

• Medical encyclopedia article on Split hand syndrome
• Wikipedia's article - Split hand syndrome

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