Living with Genito-palato-cardiac syndrome
A rare syndrome present at birth with differences in the genitals, palate, jaw, and heart.
Understanding Genito-palato-cardiac syndrome
It features male 46,XY gonadal dysgenesis (the testes do not develop typically), cleft palate, a small lower jaw (micrognathia), and heart defects. There can also be nonspecific differences in the bones, brain, and kidneys. It is noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Small lower jaw (micrognathia)
- Heart defects
- Gonadal dysgenesis (atypical testes development)
- Hypospadias and undescended testes
- Slow growth before birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene.
Also known as: gardner silengo wachtel syndrome; gardner-silengo-wachtel syndrome; genitopalatocardiac syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Genito-palato-cardiac syndrome.
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