Living with Faciocardiorenal syndrome
A very rare inherited condition with learning difficulties, a horseshoe-shaped kidney, and heart differences.
Understanding Faciocardiorenal syndrome
It is seen in newborns. Facial features can include a cleft palate, wide-set eyes, and prominent ears. Fewer teeth and a flat head shape are also reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Horseshoe kidney
- Heart differences (endocardial fibroelastosis)
- Cleft palate
- Wide-set eyes (hypertelorism)
- Fewer teeth than usual (hypodontia)
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 brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney 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. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: eastman bixler syndrome; eastman-bixler syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Faciocardiorenal syndrome.
Explore research for Faciocardiorenal syndrome
Explore actively recruiting Faciocardiorenal syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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