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genito-palato-cardiac syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

genito-palato-cardiac syndrome

MONDO:0009270

Also known as:Gardner-Silengo-Wachtel syndromeGENITOPALATOCARDIAC syndromeMale pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect

Overview

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.

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: Cleft palate, Ventricular septal defect, Double outlet right ventricle, and Right aortic arch and 7 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Cleft upper lip
Heart and blood vessels

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231060

Orphanet

European rare disease database

Orphanet:2075

GARD

Genetic and Rare Diseases Info Center

GARD:2460

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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genito-palato-cardiac syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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