" /> Cryptophthalmos, unilateral or bilateral, isolated - CISMeF





Preferred Label : Cryptophthalmos, unilateral or bilateral, isolated;

Symbol : CRYPTOP;

CISMeF acronym : CRYPTOP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ankyloblepharon, simple; Cryptophthalmos with microphthalmia and peters anomaly;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FRAS1-related extracellular matrix protein-2 gene (FREM2, 608945.0004);

Prefixed ID : #123570;

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27/07/2025


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