Overview
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome is a rare genetic condition that affects brain development and function. The name describes its main features: intellectual disability (difficulty with learning and thinking), macrocephaly (a head that is larger than expected), hypotonia (low muscle tone, meaning muscles feel floppy or weak), and behavioral abnormalities (challenges with behavior such as autism-like features, attention problems, or anxiety). This syndrome is caused by changes (mutations) in the DYRK1A gene, which plays an important role in how the brain grows and develops. Because of this, the condition is sometimes also called DYRK1A-related intellectual disability syndrome or DYRK1A haploinsufficiency syndrome. Children with this condition typically show signs early in life, including delays in reaching milestones like sitting, walking, and talking. Feeding difficulties are also common in infancy. Some children may have seizures, vision problems, or distinctive facial features. The severity of symptoms can vary widely from person to person. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting development. This includes early intervention programs, speech therapy, occupational therapy, physical therapy, and behavioral support. Seizures, if present, are treated with anti-seizure medications. A team of specialists typically works together to provide the best care for each individual.
Key symptoms:
Intellectual disability ranging from mild to severeLarger than normal head size (macrocephaly)Low muscle tone (floppiness)Delayed speech and language developmentDelayed motor milestones like walkingBehavioral challenges such as autism-like featuresAnxiety or attention difficultiesFeeding difficulties in infancySeizures or epilepsyDistinctive facial features such as a long face or deep-set eyesVision problemsSmall stature or short heightDifficulty with fine motor skills like writingSleep disturbances
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-macrocephaly-hypotonia-behavioral abnormalities syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities 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-macrocephaly-hypotonia-behavioral abnormalities syndrome.
Community
No community posts yet. Be the first to share your experience with Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome.
Start the conversation →Latest news about Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
No recent news articles for Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome.
Follow this condition to be notified when news becomes available.
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 DYRK1A mutation does my child have, and what does it mean for their outlook?,What therapies should we start right away, and how often should they occur?,Should my child be monitored for seizures, and what signs should I watch for?,Are there any clinical trials or research studies we should know about?,What educational supports and accommodations should we request at school?,How often should we schedule follow-up visits with each specialist?,Is there a risk of this condition occurring again in future pregnancies?
Common questions about Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
What is Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome?
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome is a rare genetic condition that affects brain development and function. The name describes its main features: intellectual disability (difficulty with learning and thinking), macrocephaly (a head that is larger than expected), hypotonia (low muscle tone, meaning muscles feel floppy or weak), and behavioral abnormalities (challenges with behavior such as autism-like features, attention problems, or anxiety). This syndrome is caused by changes (mutations) in the DYRK1A gene, which plays an important role in how the
How is Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome inherited?
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome typically begin?
Typical onset of Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome is infantile. Age of onset can vary across affected individuals.