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congenital heart defect-round face-developmental delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital heart defect-round face-developmental delay syndrome

MONDO:0010039

Also known as:Sonoda syndromeround face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development

Overview

Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.

GeneticsAutosomal recessive

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: Short stature, Ventricular septal defect, Narrow mouth, and High axial triradius and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Depressed nasal bridge, Intellectual disability
Growth and development

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 congenital heart defect-round face-developmental delay syndrome.

240 publications have been identified in PubMed for congenital heart defect-round face-developmental delay syndrome. Kisho has analyzed 40 by research type. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	10

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270460

Orphanet

European rare disease database

Orphanet:1355

GARD

Genetic and Rare Diseases Info Center

GARD:4905

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

congenital heart defect-round face-developmental delay 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

congenital heart defect-round face-developmental delay 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