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choroidal atrophy-alopecia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choroidal atrophy-alopecia syndrome

MONDO:0015428

Also known as:Moloney syndromeregional choroidal atrophy and alopeciachoroidal atrophy alopecia

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Visual impairment, Ectodermal dysplasia, Abnormal fingernail morphology, and Fine hair and others; and sometimes findings: Supernumerary nipple, Finger syndactyly, Patchy atrophy of the retinal pigment epithelium, and Ridged fingernail and others.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Abnormal fingernail morphology, Abnormal toenail morphology, Finger syndactyly

Prognosis

Phenotype severity distribution: 9 very common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for choroidal atrophy-alopecia syndrome.

216 publications have been identified in PubMed for choroidal atrophy-alopecia syndrome. Kisho has analyzed 37 by research type. Research spans Review / Meta-Analysis (54%), Basic Science / Preclinical (27%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	20	54%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1433

GARD

Genetic and Rare Diseases Info Center

GARD:3704

Questions for Your Care Team

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choroidal atrophy-alopecia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

choroidal atrophy-alopecia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications