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GTR Home > Conditions/Phenotypes > Isolated cryptophthalmia

Isolated cryptophthalmia

Synonyms
ANKYLOBLEPHARON, SIMPLE; Cryptophthalmos, unilateral or bilateral, isolated
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRYPTOP, FRASRS2, FREM2
    Summary: FRAS1 related extracellular matrix 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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