Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hypotrichosis with juvenile macular degeneration is a rare autosomal recessive genetic disorder characterized by sparse scalp hair and progressive vision loss beginning in childhood. It is most commonly classified in medical literature under the name Hypotrichosis with juvenile macular dystrophy, and it is officially tracked as OMIM #601553. What are the common names and synonyms for this condition? Medical literature uses several terms to refer to Hypotrichosis with juvenile macular degeneration.
Hypotrichosis with Juvenile Macular Degeneration synonyms
Other names for Hypotrichosis with Juvenile Macular Degeneration: synonyms, acronyms and related terms used by doctors and patients.
Hypotrichosis with juvenile macular degeneration is a rare autosomal recessive genetic disorder characterized by sparse scalp hair and progressive vision loss beginning in childhood. It is most commonly classified in medical literature under the name Hypotrichosis with juvenile macular dystrophy, and it is officially tracked as OMIM #601553.
What are the common names and synonyms for this condition?
Medical literature uses several terms to refer to Hypotrichosis with juvenile macular degeneration. Because this is a rare condition, clinicians may encounter it under various titles depending on the publication date or the focus of the research. Common synonyms include:
- Hypotrichosis with juvenile macular dystrophy (the most frequent clinical synonym)
- HJMD (the standard medical abbreviation)
- Cohen syndrome (though this is a distinct, separate entity, older literature sometimes conflated the two due to overlapping features, leading to historical confusion)
- Hypotrichosis-macular dystrophy syndrome
Why does Hypotrichosis with juvenile macular degeneration have multiple names?
The existence of multiple names for Hypotrichosis with juvenile macular degeneration stems from the evolution of clinical genetics. Early reports often described the condition based on the physical phenotype (sparse hair and eye findings). As genetic sequencing advanced, specifically the identification of mutations in the CDH3 gene, the nomenclature shifted toward more precise, descriptive terms. Today, medical professionals prefer the term Hypotrichosis with juvenile macular dystrophy to emphasize the underlying retinal pathology.
How is this condition classified in official databases?
For research and diagnostic purposes, it is essential to use the standardized codes assigned to Hypotrichosis with juvenile macular degeneration. These identifiers ensure consistency across international health systems:
- OMIM: #601553 (Online Mendelian Inheritance in Man)
- Orphanet: ORPHA93322
- GARD: 11488 (Genetic and Rare Diseases Information Center)
Next steps
- Consult with a clinical geneticist to discuss CDH3 gene testing if you suspect a diagnosis of Hypotrichosis with juvenile macular degeneration.
- Schedule regular evaluations with a pediatric ophthalmologist specializing in retinal dystrophies to monitor vision changes.
- Connect with the 4 members of the Hypotrichosis with juvenile macular degeneration community at DiseaseMaps.org to share experiences and coping strategies.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult a qualified healthcare provider for diagnosis and treatment.
References
- OMIM (Online Mendelian Inheritance in Man): #601553, Hypotrichosis with Juvenile Macular Dystrophy.
- Orphanet: ORPHA93322, Hypotrichosis with juvenile macular dystrophy.
- NIH GARD: Hypotrichosis with juvenile macular dystrophy.
