Ectrodactyly
Ectrodactyly
Ectrodactyly (pronounced: ek-tro-dak-til-ee), also known as Split Hand/Split Foot Malformation (SHFM), is a rare genetic disorder affecting the development of the hands and feet. The term is derived from the Greek words "ektroma" (abortion) and "daktylos" (finger), indicating the absence of one or more central digits of the hand or foot.
Definition
Ectrodactyly is characterized by the absence of one or more central digits of the hand or foot, often resulting in a cleft or split in the hand or foot. The severity and specifics of the malformation can vary greatly from person to person, even within the same family.
Causes
Ectrodactyly is typically caused by mutations in the DLX5 or DLX6 genes, although other genetic factors may also play a role. These genes are involved in the development of the limbs during embryonic growth. Mutations in these genes can disrupt normal limb development, leading to the characteristic features of ectrodactyly.
Symptoms
The primary symptom of ectrodactyly is the presence of a cleft or split in the hand or foot, often accompanied by the absence of one or more central digits. Other symptoms can include syndactyly (fusion of digits), Polydactyly (extra digits), and other deformities of the hands and feet.
Treatment
Treatment for ectrodactyly typically involves surgery to improve function and appearance of the affected limbs. Physical and occupational therapy may also be beneficial. Genetic counseling may be recommended for affected individuals and their families.
See Also
External links
- Medical encyclopedia article on Ectrodactyly
- Wikipedia's article - Ectrodactyly
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