Overview
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:1110). The syndrome is characterized by three main features: abnormalities of the aortic arch (the large blood vessel that carries blood from the heart to the rest of the body), distinctive facial features (facial dysmorphism), and intellectual disability. The aortic arch problems can include interruption, coarctation (narrowing), or other structural defects that may affect blood flow and heart function. Facial features may include a broad or flat nasal bridge, widely spaced eyes, low-set ears, and other subtle differences in facial structure. Intellectual disability can range from mild to moderate, affecting learning, speech, and adaptive behavior. Because this syndrome is so rare, the medical literature is very limited, with only a handful of reported cases. Treatment is primarily supportive and symptom-based. Heart and aortic arch defects may require surgical correction or ongoing cardiac monitoring. Children with intellectual disability benefit from early intervention services including speech therapy, occupational therapy, and special education support. Regular follow-up with multiple specialists is important to manage the various aspects of this condition. There is currently no cure or disease-specific therapy available.
Key symptoms:
Abnormal shape or structure of the aortic arch (the main blood vessel from the heart)Distinctive facial featuresIntellectual disabilityDelayed speech and language developmentLearning difficultiesWidely spaced eyesBroad or flat nasal bridgeLow-set earsHeart defects or heart murmurDelayed developmental milestonesShort stature or growth delaysFeeding difficulties in infancy
Clinical phenotype terms (23)— 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 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aortic arch anomaly-facial dysmorphism-intellectual disability 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 Aortic arch anomaly-facial dysmorphism-intellectual disability 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.What type of aortic arch abnormality does my child have, and does it need surgical repair?,How often should my child have heart check-ups and imaging?,What early intervention services should we start, and how soon?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,What developmental milestones should we watch for, and when should we be concerned?,Are there other conditions that should be ruled out that look similar to this syndrome?,What resources or support groups are available for families dealing with this rare condition?
Common questions about Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
What is Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome?
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:1110). The syndrome is characterized by three main features: abnormalities of the aortic arch (the large blood vessel that carries blood from the heart to the rest of the body), distinctive facial features (facial dysmorphism), and intellectual disability. The aortic arch problems can include interruption, coarctation (narrowing), or other structural defects that may affect blood flow an
At what age does Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome typically begin?
Typical onset of Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.