Overview
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development, body weight, facial features, and intellectual ability. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:352530) and is caused by genetic changes that disrupt normal development before and after birth. Children born with this condition typically show intellectual disability ranging from mild to severe, meaning they may have difficulty learning, reasoning, and developing skills at the expected pace. Obesity often develops in early childhood and can be difficult to manage. Brain imaging (such as MRI) may reveal structural abnormalities in the brain, including malformations of the cerebral cortex or other brain regions. Affected individuals also tend to have distinctive facial features, which may include a broad forehead, widely spaced eyes, a flat nasal bridge, or other subtle differences. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on supportive care, including special education services, speech and occupational therapy, dietary management for obesity, and monitoring for any associated medical complications. A team of specialists typically works together to address the various needs of affected individuals and their families.
Key symptoms:
Intellectual disabilityObesity beginning in childhoodBrain structure abnormalities seen on imagingDistinctive facial featuresDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLearning difficultiesBehavioral challengesLow muscle tone in infancyBroad or flat facial appearanceWidely spaced eyesSeizures in some casesShort stature in some individuals
Clinical phenotype terms (31)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-obesity-brain malformations-facial dysmorphism 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 Intellectual disability-obesity-brain malformations-facial dysmorphism 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 specific genetic change was found, and what does it mean for my child's health?,What therapies should we start right away to support my child's development?,How should we manage my child's weight, and should we see a dietitian?,Are there any brain abnormalities we should monitor over time with repeat imaging?,Is my child at risk for seizures, and what should I watch for?,What is the chance of having another child with the same condition?,Are there any clinical trials or research studies we could participate in?
Common questions about Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
What is Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development, body weight, facial features, and intellectual ability. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:352530) and is caused by genetic changes that disrupt normal development before and after birth. Children born with this condition typically show intellectual disability ranging from mild to severe, meaning they may have difficulty learning, reasoning, and developing skills at the expected pace. Obesity often develop
How is Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome inherited?
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome typically begin?
Typical onset of Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is infantile. Age of onset can vary across affected individuals.