choroidal atrophy-alopecia syndrome
Findings
No curated finding names choroidal atrophy-alopecia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Definition from the Mondo Disease Ontology (MONDO:0015428), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- Ectodermal dysplasiaHPOHP:0000968
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Sparse or absent eyelashes
Show the remaining 4
- Patchy atrophy of the retinal pigment epitheliumHPOHP:0007791
- Occasional (5% to 29% of cases)
- Ridged fingernailHPOHP:0008402
- Occasional (5% to 29% of cases)
- Supernumerary nippleHPOHP:0002558
- Occasional (5% to 29% of cases)
- Thin eyebrowHPOHP:0045074
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: choroidal atrophy-alopecia syndrome
- Also called
- Moloney syndromeregional choroidal atrophy and alopecia