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The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
Biomarker and diagnostic research for trichodysplasia-amelogenesis imperfecta syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for trichodysplasia-amelogenesis imperfecta syndrome.
118 publications have been identified in PubMed for trichodysplasia-amelogenesis imperfecta syndrome. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 50 | 42% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
30 |
25% |
Research summaries | 21 | 18% |
Disease patterns and progression | 8 | 7% |
Testing and diagnosis research | 4 | 3% |
Clinical study results | 2 | 2% |
New treatment approaches | 2 | 2% |
Other research | 1 | 1% |
Ullah S (2026). [PMID: 40108106](https://pubmed.ncbi.nlm.nih.gov/40108106/). *Biochemical genetics*. [Basic Science / Preclinical]
AlMoallem B (2026). [PMID: 42074478](https://pubmed.ncbi.nlm.nih.gov/42074478/). *Genes (Basel)*. [Case Report / Case Series]
Chen HY (2026). [PMID: 41588629](https://pubmed.ncbi.nlm.nih.gov/41588629/). *J Chin Med Assoc*. [Diagnostic / Biomarker]
Aboelmagd K (2026). [PMID: 41310317](https://pubmed.ncbi.nlm.nih.gov/41310317/). *Spine Deform*. [Clinical Trial Publication]
Rattanapornsompong K (2026). [PMID: 41876952](https://pubmed.ncbi.nlm.nih.gov/41876952/). *Oral diseases*. [Basic Science / Preclinical]
Merkuryeva ES (2026). [PMID: 42195013](https://pubmed.ncbi.nlm.nih.gov/42195013/). *Genes (Basel)*. [Case Report / Case Series]
Au CW (2026). [PMID: 41174912](https://pubmed.ncbi.nlm.nih.gov/41174912/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Sriudomporn K (2026). [PMID: 41699528](https://pubmed.ncbi.nlm.nih.gov/41699528/). *BMC pregnancy and childbirth*. [Basic Science / Preclinical]
Nelwan DA (2026). [PMID: 41717638](https://pubmed.ncbi.nlm.nih.gov/41717638/). *Radiol Case Rep*. [Case Report / Case Series]
Coutinho S (2026). [PMID: 42176186](https://pubmed.ncbi.nlm.nih.gov/42176186/). *Adv Ther*. [Review / Meta-Analysis]