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isolated cryptophthalmia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated cryptophthalmia

MONDO:0007410

Also known as:nonsyndromic cryptophthalmiaankyloblepharon, simplecryptophthalmos with microphthalmia and Peters anomaly

Overview

Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.

GeneticsAutosomal recessive · FREM2 (chr 13)

Clinical Presentation

Features include: Microphthalmia, Ankyloblepharon, Cryptophthalmos, and Glaucoma.

Organ System	Phenotype Count	Example Features
Eyes	1	Glaucoma

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FREM2 encodes FRAS1 related extracellular matrix 2 (3,169 aa). Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. Required for epidermal adhesion. Highest expression in Thyroid (6.6 TPM) and Nerve Tibial (4.1 TPM).

Isolated cryptophthalmia is associated with mutations in the FREM2 gene on chromosome 13.

FREM2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FREM2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123570

Orphanet

European rare disease database

Orphanet:91396

GARD

Genetic and Rare Diseases Info Center

GARD:16797

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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isolated cryptophthalmia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team