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brachydactyly-mesomelia-intellectual disability-heart defects syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-mesomelia-intellectual disability-heart defects syndrome

MONDO:0015259

Also known as:Stratton-Garcia-Young syndromebrachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic facebrachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face

Overview

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).

Diagnosis

Biomarker and diagnostic research for brachydactyly-mesomelia-intellectual disability-heart defects 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 brachydactyly-mesomelia-intellectual disability-heart defects syndrome.

282 publications have been identified in PubMed for brachydactyly-mesomelia-intellectual disability-heart defects syndrome. Kisho has analyzed 70 by research type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (19%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	44

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1277

GARD

Genetic and Rare Diseases Info Center

GARD:5036

Questions for Your Care Team

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brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Overview

Diagnosis

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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