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A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
Biomarker and diagnostic research for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome.
302 publications have been identified in PubMed for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome. Kisho has analyzed 118 by research type. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (13%), and Case Report / Case Series (5%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 84 |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Laboratory research | 15 | 13% |
Patient case studies | 6 | 5% |
Testing and diagnosis research | 4 | 3% |
Disease patterns and progression | 4 | 3% |
Other research | 3 | 3% |
Clinical study results | 2 | 2% |
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Manto M (2026). [PMID: 41663552](https://pubmed.ncbi.nlm.nih.gov/41663552/). *J Neurol*. [Review / Meta-Analysis]
Chang S (2026). [PMID: 41553922](https://pubmed.ncbi.nlm.nih.gov/41553922/). *Pacing Clin Electrophysiol*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
Sahoo SS (2025). [PMID: 39475954](https://pubmed.ncbi.nlm.nih.gov/39475954/). *Blood*. [Review / Meta-Analysis]
Pignataro G (2025). [PMID: 41010942](https://pubmed.ncbi.nlm.nih.gov/41010942/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Biglari S (2025). [PMID: 40101970](https://pubmed.ncbi.nlm.nih.gov/40101970/). *J Med Genet*. [Basic Science / Preclinical]