Fallot complex-intellectual disability-growth delay syndrome

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ORPHA:3304OMIM:601127Q87.8
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Overview

Fallot complex-intellectual disability-growth delay syndrome is an extremely rare genetic condition that combines a heart defect known as tetralogy of Fallot with intellectual disability and slower-than-expected physical growth. Tetralogy of Fallot is a combination of four heart problems present at birth: a hole between the lower chambers of the heart (ventricular septal defect), narrowing of the passage from the heart to the lungs (pulmonary stenosis), an aorta that sits over the ventricular septal defect, and thickening of the right side of the heart. Children with this syndrome typically show delays in reaching developmental milestones such as sitting, walking, and talking. Growth delay means that affected children are shorter and may weigh less than expected for their age. Some individuals may also have distinctive facial features or other minor physical differences. Because this syndrome affects multiple body systems, care usually involves a team of specialists. Treatment focuses on managing the heart defect, often through surgery, and providing developmental support through therapies such as speech therapy, occupational therapy, and special education services. The long-term outlook depends largely on the severity of the heart defect and the degree of intellectual disability. This condition is sometimes referred to by its Orphanet designation (ORPHA:3304) and may also be found under the broader category of syndromic tetralogy of Fallot.

Also known as:

Key symptoms:

Heart defect (tetralogy of Fallot)Intellectual disabilitySlower physical growth than expectedShort statureDelayed developmental milestonesBluish skin color due to low oxygen (cyanosis)Difficulty feeding in infancyLow birth weightSpeech and language delaysLearning difficultiesPossible distinctive facial featuresShortness of breath or rapid breathingPoor weight gain

Clinical phenotype terms (33)— hover any for plain English
Severe failure to thriveHP:0001525Double outlet right ventricleHP:00017192-3 toe syndactylyHP:0004691Frontal hirsutismHP:0011335
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Fallot complex-intellectual disability-growth delay syndrome.

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No actively recruiting trials found for Fallot complex-intellectual disability-growth delay syndrome at this time.

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No specialists are currently listed for Fallot complex-intellectual disability-growth delay syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Fallot complex-intellectual disability-growth delay syndrome.

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Community

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Caregiver Resources

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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.How severe is my child's heart defect, and when will surgery be needed?,What genetic testing should be done to look for the cause of this syndrome?,What developmental therapies should we start, and how soon?,Are there any activity restrictions my child should follow?,What signs of a medical emergency should I watch for at home?,How often will my child need follow-up with a cardiologist after surgery?,What educational support and resources are available for children with intellectual disability?

Common questions about Fallot complex-intellectual disability-growth delay syndrome

What is Fallot complex-intellectual disability-growth delay syndrome?

Fallot complex-intellectual disability-growth delay syndrome is an extremely rare genetic condition that combines a heart defect known as tetralogy of Fallot with intellectual disability and slower-than-expected physical growth. Tetralogy of Fallot is a combination of four heart problems present at birth: a hole between the lower chambers of the heart (ventricular septal defect), narrowing of the passage from the heart to the lungs (pulmonary stenosis), an aorta that sits over the ventricular septal defect, and thickening of the right side of the heart. Children with this syndrome typically sh

At what age does Fallot complex-intellectual disability-growth delay syndrome typically begin?

Typical onset of Fallot complex-intellectual disability-growth delay syndrome is neonatal. Age of onset can vary across affected individuals.