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Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.
Features include: Hidrotic ectodermal dysplasia, Inner ear hearing loss (sensorineural hearing impairment), Joint contracture of the hand, and Thoracic scoliosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Joint contracture of the hand, Thoracic scoliosis |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for ectodermal dysplasia-sensorineural deafness syndrome.
15 publications have been identified in PubMed for ectodermal dysplasia-sensorineural deafness syndrome. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 53% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Inner ear hearing loss (sensorineural hearing impairment) |
Muscles | 1 | Joint contracture of the hand |
Arms and legs | 1 | Joint contracture of the hand |
Research summaries |
3 |
20% |
Laboratory research | 2 | 13% |
Disease patterns and progression | 2 | 13% |
Vergani D (2026). [PMID: 41195743](https://pubmed.ncbi.nlm.nih.gov/41195743/). *Am J Med Genet A*. [Epidemiology / Natural History]
Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *J Med Case Rep*. [Review / Meta-Analysis]
Mangali NP (2025). [PMID: 39644353](https://pubmed.ncbi.nlm.nih.gov/39644353/). *Pediatr Radiol*. [Case Report / Case Series]
Al-Bustanji R (2025). [PMID: 41305774](https://pubmed.ncbi.nlm.nih.gov/41305774/). *Medicine (Baltimore)*. [Case Report / Case Series]
Elmakhzen B (2025). [PMID: 40369851](https://pubmed.ncbi.nlm.nih.gov/40369851/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Li Y (2025). [PMID: 39912399](https://pubmed.ncbi.nlm.nih.gov/39912399/). *J Biosci*. [Review / Meta-Analysis]
Saleh TS (2025). [PMID: 40883811](https://pubmed.ncbi.nlm.nih.gov/40883811/). *J Med Case Rep*. [Case Report / Case Series]
Du H (2025). [PMID: 40716589](https://pubmed.ncbi.nlm.nih.gov/40716589/). *Gene*. [Basic Science / Preclinical]
Strych L (2025). [PMID: 39925176](https://pubmed.ncbi.nlm.nih.gov/39925176/). *Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub*. [Case Report / Case Series]
Fallon K (2025). [PMID: 40208623](https://pubmed.ncbi.nlm.nih.gov/40208623/). *JAMA Otolaryngol Head Neck Surg*. [Case Report / Case Series]