Overview
Intellectual disability-seizures-macrocephaly-obesity syndrome is an extremely rare genetic condition that affects brain development and body growth. It is sometimes referred to by its associated gene name, MAST1-related syndrome. People with this condition typically have intellectual disability, which means they may have difficulty learning, reasoning, and problem-solving compared to others their age. Seizures (episodes of abnormal electrical activity in the brain) are another hallmark feature and can vary in type and severity. Macrocephaly, meaning a head circumference that is larger than expected, is often noticed early in life. Obesity or significant weight gain tends to develop during childhood. The syndrome may also include delays in reaching developmental milestones such as sitting, walking, and talking. Some individuals may have behavioral challenges. Because this is a very recently described and rare condition, the full range of symptoms is still being understood. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms, such as anti-seizure medications for epilepsy, educational support for intellectual disability, dietary and lifestyle interventions for obesity, and therapies like speech and occupational therapy to support development. Early intervention and a coordinated care team can help improve quality of life.
Also known as:
Key symptoms:
Intellectual disability (difficulty with learning and reasoning)Seizures or epilepsyLarger than normal head size (macrocephaly)Obesity or excessive weight gainDelayed speech and language developmentDelayed motor milestones (sitting, walking)Behavioral difficultiesLow muscle tone (hypotonia)Feeding difficulties in infancyPossible abnormalities on brain MRI
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-seizures-macrocephaly-obesity syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-seizures-macrocephaly-obesity 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-seizures-macrocephaly-obesity 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 seizures does my child have, and what is the best medication to control them?,Are there any clinical trials or research studies we could participate in?,What therapies (speech, occupational, physical) should we start, and how often?,How should we manage my child's weight, and should we see a dietitian?,What should I do if my child has a prolonged seizure at home?,How often should we have follow-up brain imaging or EEG testing?,What educational supports and accommodations should we request at school?
Common questions about Intellectual disability-seizures-macrocephaly-obesity syndrome
What is Intellectual disability-seizures-macrocephaly-obesity syndrome?
Intellectual disability-seizures-macrocephaly-obesity syndrome is an extremely rare genetic condition that affects brain development and body growth. It is sometimes referred to by its associated gene name, MAST1-related syndrome. People with this condition typically have intellectual disability, which means they may have difficulty learning, reasoning, and problem-solving compared to others their age. Seizures (episodes of abnormal electrical activity in the brain) are another hallmark feature and can vary in type and severity. Macrocephaly, meaning a head circumference that is larger than ex
How is Intellectual disability-seizures-macrocephaly-obesity syndrome inherited?
Intellectual disability-seizures-macrocephaly-obesity syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-seizures-macrocephaly-obesity syndrome typically begin?
Typical onset of Intellectual disability-seizures-macrocephaly-obesity syndrome is infantile. Age of onset can vary across affected individuals.