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intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

MONDO:0015458

Also known as:Da Silva syndromeintellectual disability - hypoplastic corpus callosum - preauricular tag

Overview

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Microcephaly, Preauricular skin tag, Protruding ear, and Hypertonia and others; and common findings: Abnormal palate morphology, Micrognathia, Intrauterine growth retardation, and Talipes and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	3	Growth delay, Intrauterine growth retardation, Short stature

Prognosis

Phenotype severity distribution: 11 very common features, 5 common features.

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 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome.

2 publications have been identified in PubMed for intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Human genomics*. [Review / Meta-Analysis]
Mikhailova T (2025). [PMID: 40756776](https://pubmed.ncbi.nlm.nih.gov/40756776/). *Case reports in genetics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1495

GARD

Genetic and Rare Diseases Info Center

GARD:12487

Questions for Your Care Team

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intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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