isolated cryptophthalmia
MONDO:0007410Mondo
Findings
No curated finding names isolated cryptophthalmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007410), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CryptophthalmosHPOHP:0001126
Where it sits
- A kind of
- Narrower terms (3)
Other names
1 name
Resolves to: isolated cryptophthalmia
- Also called
- nonsyndromic cryptophthalmia