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Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
Features include: Tooth malposition, Fine hair, Nasal flaring, and Short stature and 10 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 1 | Short stature |
Eyes |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for ectodermal dysplasia-blindness syndrome.
11 publications have been identified in PubMed for ectodermal dysplasia-blindness syndrome. Research spans Basic Science / Preclinical (45%), Epidemiology / Natural History (36%), and Other (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 45% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Blindness |
Head and neck | 1 | Abnormal facial shape |
Brain and nerves | 1 | Intellectual disability |
Disease patterns and progression
4 |
36% |
Other research | 1 | 9% |
Patient case studies | 1 | 9% |
Spirig SE (2026). [PMID: 41916277](https://pubmed.ncbi.nlm.nih.gov/41916277/). *Neuron*. [Basic Science / Preclinical]
Rodrigues R (2026). [PMID: 41198132](https://pubmed.ncbi.nlm.nih.gov/41198132/). *Cornea*. [Other]
Santos Manzi de Souza PF (2025). [PMID: 39821607](https://pubmed.ncbi.nlm.nih.gov/39821607/). *Braz J Microbiol*. [Epidemiology / Natural History]
Wang J (2025). [PMID: 40612668](https://pubmed.ncbi.nlm.nih.gov/40612668/). *Genes Dis*. [Basic Science / Preclinical]
Venkataraghavan N (2025). [PMID: 40018733](https://pubmed.ncbi.nlm.nih.gov/40018733/). *Clin Ophthalmol*. [Epidemiology / Natural History]
GBD 2019 Acute and Chronic Care Collaborators (2025). [PMID: 40335470](https://pubmed.ncbi.nlm.nih.gov/40335470/). *Nat Commun*. [Epidemiology / Natural History]
Marques JP (2024). [PMID: 39277603](https://pubmed.ncbi.nlm.nih.gov/39277603/). *Sci Rep*. [Epidemiology / Natural History]
Subramanian SM (2024). [PMID: 39675810](https://pubmed.ncbi.nlm.nih.gov/39675810/). *BMJ Case Rep*. [Case Report / Case Series]
Sharma D (2024). [PMID: 39499641](https://pubmed.ncbi.nlm.nih.gov/39499641/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Milanez EPR (2024). [PMID: 38695201](https://pubmed.ncbi.nlm.nih.gov/38695201/). *Mycoses*. [Basic Science / Preclinical]
AI-curated news mentioning ectodermal dysplasia-blindness syndrome
Updated Aug 8, 2014
CDC's Tim McAfee honors Bill Busse, a former participant in the 'Tips From Former Smokers' campaign, who passed away after facing severe health challenges including kidney failure and leg amputation. His story highlights the impact of smoking on health.