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dysmorphism-pectus carinatum-joint laxity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dysmorphism-pectus carinatum-joint laxity syndrome

MONDO:0016219

Also known as:Guízar Vázquez-Sánchez-Manzano syndromeGuizar Vasquez Sanchez Manzano syndrome

Overview

Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.

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 dysmorphism-pectus carinatum-joint laxity syndrome.

149 publications have been identified in PubMed for dysmorphism-pectus carinatum-joint laxity syndrome. Kisho has analyzed 45 by research type. Research spans Review / Meta-Analysis (47%), Case Report / Case Series (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	21	47%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2104

GARD

Genetic and Rare Diseases Info Center

GARD:18760

Questions for Your Care Team

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dysmorphism-pectus carinatum-joint laxity syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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