Overview
Holoprosencephaly-radial heart renal anomalies syndrome is an extremely rare condition that affects multiple organ systems during development before birth. The name describes the key features: holoprosencephaly (a brain malformation where the front part of the brain fails to divide properly into two halves), radial defects (problems with the thumb-side bone of the forearm and the thumb itself), heart defects, and kidney (renal) abnormalities. This syndrome is sometimes referred to as holoprosencephaly with radial, cardiac, and renal anomalies. Babies born with this condition typically show facial differences that can range from mild (such as closely spaced eyes or a single central front tooth) to severe (such as a single eye or absent nose). The brain malformation can lead to significant intellectual disability, seizures, and developmental delays. Heart defects may include holes between heart chambers or other structural problems. Kidney abnormalities can range from misshapen kidneys to absent kidneys. Limb differences, particularly involving the radius bone and thumb, are also characteristic. Because this syndrome affects so many vital organs, treatment is primarily supportive and focused on managing individual symptoms. Surgery may be needed for heart defects, and therapies are provided to support development. The overall outlook depends heavily on the severity of the brain and organ involvement. Due to the extreme rarity of this condition, there is limited published medical literature, and management is guided by expert opinion and experience with the individual components of the syndrome.
Also known as:
Key symptoms:
Brain malformation where the front of the brain does not divide properlyFacial differences such as closely spaced eyes or a flat noseMissing or underdeveloped thumbMissing or shortened forearm bone on the thumb sideHeart defects present at birthKidney abnormalities or missing kidneysIntellectual disabilitySeizuresDelayed development and growthFeeding difficulties in infancyLow muscle toneVision problemsHearing problems
Clinical phenotype terms (27)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Holoprosencephaly-radial heart renal anomalies syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Holoprosencephaly-radial heart renal anomalies syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Holoprosencephaly-radial heart renal anomalies 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 Holoprosencephaly-radial heart renal anomalies syndrome.
Community
No community posts yet. Be the first to share your experience with Holoprosencephaly-radial heart renal anomalies syndrome.
Start the conversation →Latest news about Holoprosencephaly-radial heart renal anomalies syndrome
No recent news articles for Holoprosencephaly-radial heart renal anomalies syndrome.
Follow this condition to be notified when news becomes available.
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.What type and severity of holoprosencephaly does my child have, and what does this mean for their development?,How severe are the heart and kidney problems, and will surgery be needed?,What genetic testing should be done, and what will the results mean for future pregnancies?,What therapies and early intervention services should we start right away?,What is the seizure management plan, and when should we go to the emergency room?,Are there any clinical trials or research studies that might be relevant for my child?,What support services are available for our family, including palliative care if needed?
Common questions about Holoprosencephaly-radial heart renal anomalies syndrome
What is Holoprosencephaly-radial heart renal anomalies syndrome?
Holoprosencephaly-radial heart renal anomalies syndrome is an extremely rare condition that affects multiple organ systems during development before birth. The name describes the key features: holoprosencephaly (a brain malformation where the front part of the brain fails to divide properly into two halves), radial defects (problems with the thumb-side bone of the forearm and the thumb itself), heart defects, and kidney (renal) abnormalities. This syndrome is sometimes referred to as holoprosencephaly with radial, cardiac, and renal anomalies. Babies born with this condition typically show fa
At what age does Holoprosencephaly-radial heart renal anomalies syndrome typically begin?
Typical onset of Holoprosencephaly-radial heart renal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.