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microcephaly-deafness-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-deafness-intellectual disability syndrome

MONDO:0007991

Also known as:Kawashima-Tsuji syndromemicrocephaly deafness syndromesyndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies

Overview

Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.

Diagnosis

Biomarker and diagnostic research for microcephaly-deafness-intellectual disability syndrome has been reported in the published literature.

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 microcephaly-deafness-intellectual disability syndrome.

308 publications have been identified in PubMed for microcephaly-deafness-intellectual disability syndrome. Kisho has analyzed 124 by research type. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Research summaries	50	40%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:156620

Orphanet

European rare disease database

Orphanet:2533

GARD

Genetic and Rare Diseases Info Center

GARD:230

Questions for Your Care Team

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microcephaly-deafness-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications