Synpolydactyly

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Synpolydactyly

Synpolydactyly (pronounced: sin-poly-dak-til-ee) is a rare congenital physical anomaly in humans, involving malformations of the hands and feet.

Etymology

The term "synpolydactyly" is derived from the Greek words "syn" meaning together, "poly" meaning many, and "daktylos" meaning finger. It refers to the condition where there are extra digits (fingers or toes), and some of them are fused together.

Definition

Synpolydactyly is a type of polydactyly, which is a condition characterized by the presence of more than the usual number of digits on the hands or feet. In synpolydactyly, not only are there extra digits, but some of them are fused together or have a webbed appearance.

Types

There are two types of synpolydactyly:

  1. Type I Synpolydactyly - This is the most common type, where the middle and ring fingers or the third and fourth toes are webbed together. There may also be an extra digit on the side of the hand or foot.
  2. Type II Synpolydactyly - This is a more severe form, where there are multiple extra digits, and several of them may be fused together.

Causes

Synpolydactyly is caused by mutations in the HOXD13 gene. This gene provides instructions for making a protein that is important for the development of the limbs, fingers, and toes. Mutations in this gene disrupt the normal development process, leading to the malformations seen in synpolydactyly.

Treatment

Treatment for synpolydactyly typically involves surgery to separate the fused digits and remove any extra ones. Physical therapy may also be needed to improve function and mobility.

Related Terms

  • Polydactyly - A condition characterized by the presence of more than the usual number of digits on the hands or feet.
  • Syndactyly - A condition where two or more digits are fused together.
  • HOXD13 - A gene that provides instructions for making a protein that is important for the development of the limbs, fingers, and toes.

External links

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