Overview
Congenital heart defect-round face-developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth. It is sometimes referred to by its Orphanet designation (ORPHA:1355). The hallmark features of this syndrome include heart defects present at birth (congenital heart defects), a distinctive round facial appearance, and delays in reaching developmental milestones such as sitting, walking, and talking. Children with this condition may also have intellectual disability of varying degrees, short stature, and other physical features that can help doctors recognize the syndrome. Because this syndrome is so rare, only a handful of cases have been described in the medical literature. The heart defects can range from mild to severe and may include problems with the heart valves or the walls separating the heart chambers. The round face is often noticeable in early childhood and may be accompanied by other subtle facial features such as a flat nasal bridge or widely spaced eyes. Treatment is focused on managing individual symptoms. Heart defects may require surgical repair or ongoing monitoring by a cardiologist. Developmental delays are typically addressed through early intervention programs including speech therapy, occupational therapy, and physical therapy. There is currently no cure or disease-specific treatment, so care is supportive and tailored to each patient's needs. A team of specialists working together provides the best outcomes for affected individuals.
Also known as:
Key symptoms:
Heart defects present at birthRound faceDevelopmental delayIntellectual disabilityShort statureFlat nasal bridgeWidely spaced eyesLow muscle toneDelayed speech developmentDelayed motor milestones such as walkingFeeding difficulties in infancySmall head size
Clinical phenotype terms (12)— 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 Congenital heart defect-round face-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital heart defect-round face-developmental delay 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 Congenital heart defect-round face-developmental delay 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
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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 of heart defect does my child have, and will it need surgery?,What developmental therapies should we start, and how often?,Should we pursue genetic testing, and what kind would be most helpful?,Are there any activity restrictions my child should follow?,How often should my child see a cardiologist for follow-up?,What signs or symptoms should prompt me to seek emergency care?,Are there any other specialists my child should see?
Common questions about Congenital heart defect-round face-developmental delay syndrome
What is Congenital heart defect-round face-developmental delay syndrome?
Congenital heart defect-round face-developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth. It is sometimes referred to by its Orphanet designation (ORPHA:1355). The hallmark features of this syndrome include heart defects present at birth (congenital heart defects), a distinctive round facial appearance, and delays in reaching developmental milestones such as sitting, walking, and talking. Children with this condition may also have intellectual disability of varying degrees, short stature, and other physical features that can help doct
At what age does Congenital heart defect-round face-developmental delay syndrome typically begin?
Typical onset of Congenital heart defect-round face-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.