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Cryptophthalmos--syndactyly syndrome without cryptophthalmos
Clinical Genetics
|May 1, 1986
Summary
Cryptophthalmos-syndactyly syndrome can occur without eye abnormalities. This pleomorphic condition involves acrofacial and urogenital malformations, and may be diagnosed even without the typical cryptophthalmos.
Area of Science:
- Medical Genetics
- Developmental Biology
- Ophthalmology
Background:
- Cryptophthalmos-syndactyly syndrome is a rare congenital disorder.
- The condition is characterized by syndactyly (webbed fingers or toes) and cryptophthalmos (hidden eye).
- Previous literature suggests eye lesions are a hallmark of this syndrome.