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Features include always present findings: Downslanted palpebral fissures, Thick vermilion border, Hypodontia, and Sparse scalp hair and others; and very common findings: Decreased sweating (hypohidrosis). 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Hearing abnormality |
TSPEAR function has not been fully characterized.
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis is associated with mutations in the TSPEAR gene on chromosome 21.
Genetic testing for TSPEAR is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis has been reported in the published literature.
Phenotype severity distribution: 7 always present features, 1 very common feature.
No clinical trials have been registered for ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.
82 publications have been identified in PubMed for ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 41 | 54% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:49 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Skin
1 |
Decreased sweating (hypohidrosis) |
Head and neck | 1 | Oval face |
Research summaries |
15 |
20% |
Disease patterns and progression | 10 | 13% |
Laboratory research | 6 | 8% |
Clinical study results | 2 | 3% |
Other research | 1 | 1% |
Testing and diagnosis research | 1 | 1% |
Huang C (2026). [PMID: 41872875](https://pubmed.ncbi.nlm.nih.gov/41872875/). *BMC Oral Health*. [Case Report / Case Series]
Kügler C (2026). [PMID: 41652480](https://pubmed.ncbi.nlm.nih.gov/41652480/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Esener Z (2026). [PMID: 40701644](https://pubmed.ncbi.nlm.nih.gov/40701644/). *Clin Genet*. [Case Report / Case Series]
Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *J Med Case Rep*. [Review / Meta-Analysis]
Wang J (2026). [PMID: 41744021](https://pubmed.ncbi.nlm.nih.gov/41744021/). *Intractable Rare Dis Res*. [Epidemiology / Natural History]
Lenggenhager-Krakoski N (2026). [PMID: 41479298](https://pubmed.ncbi.nlm.nih.gov/41479298/). *Eur J Anaesthesiol*. [Case Report / Case Series]
Enrique Madrid S (2026). [PMID: 41507027](https://pubmed.ncbi.nlm.nih.gov/41507027/). *Nefrologia (Engl Ed)*. [Case Report / Case Series]
Kageyama R (2026). [PMID: 41933877](https://pubmed.ncbi.nlm.nih.gov/41933877/). *J Invest Dermatol*. [Basic Science / Preclinical]
Nguyen TN (2026). [PMID: 40717352](https://pubmed.ncbi.nlm.nih.gov/40717352/). *J Dent Res*. [Basic Science / Preclinical]
Elise P (2026). [PMID: 42089627](https://pubmed.ncbi.nlm.nih.gov/42089627/). *Clin Genet*. [Review / Meta-Analysis]