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congenital hypothalamic hamartoma syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

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 always present findings: Hypothalamic hamartoma and Postaxial foot polydactyly; and common findings: Toe syndactyly, Short stature, Focal emotional seizure with crying, and Microcephaly and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Median cleft upper lip, Macrocephaly, Cleft palate
Brain and nerves	4	Focal emotional seizure with crying, Hydrocephalus, Delayed speech and language development
Arms and legs	3	Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly
Lungs and breathing	1	Pulmonary hypoplasia
Growth and development	1	Short stature
Kidneys and urinary system	1	Renal dysplasia
Bones and joints	1	Skeletal dysplasia

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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 congenital hypothalamic hamartoma syndrome.

75 publications have been identified in PubMed for congenital hypothalamic hamartoma syndrome. Kisho has analyzed 58 by research type. Research spans Review / Meta-Analysis (31%), Clinical Trial Publication (24%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Research summaries	18	31%
Clinical study results	14	24%
Patient case studies	13	22%
Disease patterns and progression	5	9%
Testing and diagnosis research	4	7%
Laboratory research	3	5%
Other research	1	2%

Recent Publications

Reinacher PC (2026). [PMID: 41030180](https://pubmed.ncbi.nlm.nih.gov/41030180/). *Epilepsia*. [Clinical Trial Publication]
Hall WA (2026). [PMID: 32809498](https://pubmed.ncbi.nlm.nih.gov/32809498/). *Unknown Journal*. [Review / Meta-Analysis]
Gogou M (2026). [PMID: 41747505](https://pubmed.ncbi.nlm.nih.gov/41747505/). *Seizure*. [Clinical Trial Publication]
Robilliard R (2026). [PMID: 41383814](https://pubmed.ncbi.nlm.nih.gov/41383814/). *JCEM Case Rep*. [Case Report / Case Series]
De Benedictis A (2026). [PMID: 41962169](https://pubmed.ncbi.nlm.nih.gov/41962169/). *J Neurosurg Pediatr*. [Clinical Trial Publication]
Al-Juboori AA (2026). [PMID: 41276078](https://pubmed.ncbi.nlm.nih.gov/41276078/). *World Neurosurg*. [Review / Meta-Analysis]
Ricciardi GK (2025). [PMID: 39730953](https://pubmed.ncbi.nlm.nih.gov/39730953/). *Neurol Sci*. [Review / Meta-Analysis]
Cossu G (2025). [PMID: 41005656](https://pubmed.ncbi.nlm.nih.gov/41005656/). *World Neurosurg*. [Review / Meta-Analysis]
Woods SB (2025). [PMID: 40972023](https://pubmed.ncbi.nlm.nih.gov/40972023/). *J Neurosurg Pediatr*. [Review / Meta-Analysis]
Turhan B (2025). [PMID: 39710518](https://pubmed.ncbi.nlm.nih.gov/39710518/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

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congenital hypothalamic hamartoma syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

congenital hypothalamic hamartoma syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team