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;
Origin ID : 123570;
UMLS CUI : C1852453;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
