EDICT syndrome
Findings
No curated finding names EDICT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0013678), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
3 features
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.
- Anterior polar cataractHPOHP:0001134
- 18 of 18 reported patients · Childhood onset
- AstigmatismHPOHP:0000483
- 18 of 18 reported patients · Juvenile onset
- KeratoconusHPOHP:0000563
- 18 of 18 reported patients · Juvenile onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:31555HGNC:31555
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: EDICT syndrome
- Also called
- autosomal dominant keratoconus with early-onset anterior polar cataractsendothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndromefamilial keratoconus with cataractKTCNCT