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trigonocephaly-bifid nose-acral anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trigonocephaly-bifid nose-acral anomalies syndrome

MONDO:0010154

Also known as:trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotoniatrigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feettrigonocephaly - bifid nose - acral anomalies

Overview

Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.

Diagnosis

Biomarker and diagnostic research for trigonocephaly-bifid nose-acral anomalies 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-bifid nose-acral anomalies syndrome.

200 publications have been identified in PubMed for trigonocephaly-bifid nose-acral anomalies syndrome. Kisho has analyzed 113 by research type. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (18%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	68	60%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275595

Orphanet

European rare disease database

Orphanet:3368

GARD

Genetic and Rare Diseases Info Center

GARD:5126

Questions for Your Care Team

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trigonocephaly-bifid nose-acral anomalies 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