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dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

MONDO:0019102

Overview

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome.

3 publications have been identified in PubMed for dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Muldiiarov V (2025). [PMID: 40988516](https://pubmed.ncbi.nlm.nih.gov/40988516/). *Orthopaedic surgery*. [Review / Meta-Analysis]
Maeda M (2025). [PMID: 40047103](https://pubmed.ncbi.nlm.nih.gov/40047103/). *Traffic (Copenhagen, Denmark)*. [Review / Meta-Analysis]
Abdel-Hamid MS (2025). [PMID: 40119123](https://pubmed.ncbi.nlm.nih.gov/40119123/). *Journal of human genetics*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:71267

GARD

Genetic and Rare Diseases Info Center

GARD:18909

Questions for Your Care Team

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dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team