Rare diseases · Sign or symptom
Corneal dystrophy
HP:0001131
What it means
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Rare diseases that can present with this22
Very common80–99%
11- Alagille syndrome
- Cerebello-oculo-facio-genital syndrome
- Corneal dystrophy-perceptive deafness syndrome
- Corneodermatoosseous syndrome
- Dermochondrocorneal dystrophy
- Ectodermal dysplasia-blindness syndrome
- Epithelial recurrent erosion dystrophy
- Fabry disease
- Hereditary mucoepithelial dysplasia
- Oculodental syndrome, Rutherfurd type
- Spastic ataxia-corneal dystrophy syndrome
Common30–79%
3Sometimes5–29%
6The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.