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dysmorphism-conductive hearing loss-heart defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dysmorphism-conductive hearing loss-heart defect syndrome

MONDO:0014044

Also known as:TYSHCHENKO syndrome

Overview

A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.

GeneticsAutosomal dominant

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: Narrow palate, Mild intellectual disability, Short stature, and Ventricular septal defect and 23 more.

Organ System	Phenotype Count	Example Features
Head and neck	4	Narrow palate, High palate, Cleft palate
Brain and nerves

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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-conductive hearing loss-heart defect syndrome.

201 publications have been identified in PubMed for dysmorphism-conductive hearing loss-heart defect syndrome. Kisho has analyzed 21 by research type. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (14%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	14	67%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615102

Orphanet

European rare disease database

Orphanet:289553

GARD

Genetic and Rare Diseases Info Center

GARD:17328

Questions for Your Care Team

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Kisho

dysmorphism-conductive hearing loss-heart defect syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dysmorphism-conductive hearing loss-heart defect syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications