Cryptophthalmos

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Cryptophthalmos (pronunciation: krip-tof-thal-mos) is a rare congenital disorder characterized by the absence or abnormal development of the eyelids. The term is derived from the Greek words "kryptos" meaning hidden and "ophthalmos" meaning eye.

Definition

Cryptophthalmos is a condition in which the skin of the forehead continues onto the cheeks, passing over the socket where the eye should be. This results in the absence of a normal eye or the presence of a hidden eye beneath the skin. It is often associated with other systemic abnormalities, particularly of the genitourinary system and the craniofacial region.

Types

There are three types of cryptophthalmos: complete, incomplete, and abortive. In complete cryptophthalmos, the entire eye is covered by skin. Incomplete cryptophthalmos is when part of the eye can be seen beneath the skin, and abortive cryptophthalmos is when only a small part of the eye is covered.

Etiology

The exact cause of cryptophthalmos is unknown, but it is believed to be due to a mutation in the FOXC1 or FREAC-3 genes. It is typically inherited in an autosomal recessive manner.

Treatment

Treatment for cryptophthalmos is primarily surgical and aims to create a functional and cosmetically acceptable eye. This may involve the use of skin grafts or artificial eyes.

Related Terms

  • Microphthalmia: A condition where one or both eyes are abnormally small.
  • Anophthalmia: The absence of one or both eyes.
  • Syndactyly: A condition where two or more digits are fused together.

See Also

External links

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