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congenital hypotrichosis with juvenile macular dystrophy (HJMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital hypotrichosis with juvenile macular dystrophy

MONDO:0011107

Also known as:HJMDhypotrichosis with cone-rod dystrophyhypotrichosis with juvenile macular dystrophy

Overview

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

GeneticsAutosomal recessive · CDH3 (chr 16)

ResearchLimited published research (5 articles)

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 always present findings: Subretinal deposits, Pallor, Sparse hair, and Epidermoid cyst and others; and very common findings: Blindness, Macular degeneration, Sparse scalp hair, and Short stature and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Blindness, Macular atrophy, Macular hyperpigmentation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CDH3 encodes cadherin 3 (829 aa). Cadherins are calcium-dependent cell adhesion proteins. Highest expression in Ovary (50.2 TPM) and Fallopian Tube (26.3 TPM).

Congenital hypotrichosis with juvenile macular dystrophy is associated with mutations in the CDH3 gene on chromosome 16.

The CDH3 protein participates in Regulation of Expression and Function of Type I Classical Cadherins and Mammary myoepithelial progenitor cell produces mature myoepithelial cell pathways.

CDH3 is classified as a druggable target (Druggable Genome category) with score 26.1.

Diagnosis

Genetic testing for CDH3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 5 very common features, 3 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 congenital hypotrichosis with juvenile macular dystrophy.

5 publications have been identified in PubMed for congenital hypotrichosis with juvenile macular dystrophy. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).

Recent Publications

Danish E (2026). [PMID: 42109964](https://pubmed.ncbi.nlm.nih.gov/42109964/). *Cureus*. [Case Report / Case Series]
Lin Y (2026). [PMID: 42199197](https://pubmed.ncbi.nlm.nih.gov/42199197/). *Case Rep Ophthalmol*. [Case Report / Case Series]
So N (2025). [PMID: 39992008](https://pubmed.ncbi.nlm.nih.gov/39992008/). *Australas J Dermatol*. [Review / Meta-Analysis]
Prieto LE (2025). [PMID: 40330852](https://pubmed.ncbi.nlm.nih.gov/40330852/). *Skin Appendage Disord*. [Case Report / Case Series]
Xuan M (2025). [PMID: 41117728](https://pubmed.ncbi.nlm.nih.gov/41117728/). *Ophthalmol Retina*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601553

Orphanet

European rare disease database

Orphanet:1573

GARD

Genetic and Rare Diseases Info Center

GARD:3066

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

congenital hypotrichosis with juvenile macular dystrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.

congenital hypotrichosis with juvenile macular dystrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.