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hamel cerebro-palato-cardiac syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hamel cerebro-palato-cardiac syndrome

MONDO:0019767

Overview

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

ResearchLimited published research (1 article)

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: Narrow mouth, Cleft palate, Microcephaly, and Malar flattening and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Microcephaly
Brain and nerves

Prognosis

Phenotype severity distribution: 13 very 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 hamel cerebro-palato-cardiac syndrome.

1 publication has been identified in PubMed for hamel cerebro-palato-cardiac syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Kanagavel Y (2025). [PMID: 39779256](https://pubmed.ncbi.nlm.nih.gov/39779256/). *Ann Indian Acad Neurol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93946

GARD

Genetic and Rare Diseases Info Center

GARD:19240

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hamel cerebro-palato-cardiac syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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