Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

trigonocephaly-broad thumbs syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trigonocephaly-broad thumbs syndrome

MONDO:0018064

Also known as:Hunter-Rudd-Hoffmann syndrome

Overview

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.

Diagnosis

Biomarker and diagnostic research for trigonocephaly-broad thumbs 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 trigonocephaly-broad thumbs syndrome.

300 publications have been identified in PubMed for trigonocephaly-broad thumbs syndrome. Kisho has analyzed 61 by research type. Research spans Review / Meta-Analysis (26%), Case Report / Case Series (26%), and Other (18%).

Research Type	Count	% of Total
Research summaries	16	26%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3365

GARD

Genetic and Rare Diseases Info Center

GARD:2756

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

trigonocephaly-broad thumbs syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications