Overview
Faciocardiorenal syndrome, also known as Eastman-Bixler syndrome, is an extremely rare genetic condition that affects multiple body systems, primarily the face, heart, and kidneys. The name itself reflects these three areas of involvement: 'facio' refers to the face, 'cardio' to the heart, and 'renal' to the kidneys. People born with this syndrome typically have distinctive facial features, heart defects present from birth (congenital heart disease), and kidney abnormalities. Facial features may include a flat or broad nasal bridge, widely spaced eyes, and ear abnormalities. Heart problems can range from structural defects like septal defects (holes between heart chambers) to other congenital malformations. Kidney issues may include malformed or underdeveloped kidneys. Some affected individuals may also experience developmental delays or intellectual disability. Because this condition is so rare, with only a handful of cases described in the medical literature, there is no specific cure or targeted treatment. Management focuses on treating each symptom individually. Heart defects may require surgical repair, kidney problems may need monitoring or intervention by a nephrologist, and developmental support services can help children reach their full potential. Early diagnosis and a coordinated team of specialists are important for the best possible outcomes.
Also known as:
Key symptoms:
Unusual facial features such as a flat nasal bridgeWidely spaced eyesEar abnormalitiesCongenital heart defectsKidney malformations or underdeveloped kidneysDevelopmental delaysIntellectual disabilityGrowth delays or short statureLow-set earsFeeding difficulties in infancy
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Faciocardiorenal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Faciocardiorenal syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Faciocardiorenal syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are my child's heart and kidney problems, and what treatments are needed?,Should we pursue genetic testing, and what type would be most helpful?,What developmental milestones should we watch for, and when should we be concerned?,How often does my child need follow-up appointments with each specialist?,Are there any dietary restrictions we should follow because of the kidney involvement?,What emergency signs should we watch for at home?,Is genetic counseling recommended for our family if we plan to have more children?
Common questions about Faciocardiorenal syndrome
What is Faciocardiorenal syndrome?
Faciocardiorenal syndrome, also known as Eastman-Bixler syndrome, is an extremely rare genetic condition that affects multiple body systems, primarily the face, heart, and kidneys. The name itself reflects these three areas of involvement: 'facio' refers to the face, 'cardio' to the heart, and 'renal' to the kidneys. People born with this syndrome typically have distinctive facial features, heart defects present from birth (congenital heart disease), and kidney abnormalities. Facial features may include a flat or broad nasal bridge, widely spaced eyes, and ear abnormalities. Heart problems can
How is Faciocardiorenal syndrome inherited?
Faciocardiorenal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Faciocardiorenal syndrome typically begin?
Typical onset of Faciocardiorenal syndrome is neonatal. Age of onset can vary across affected individuals.