Overview
DYRK1A-related intellectual disability syndrome is a rare genetic condition caused by changes (mutations) in the DYRK1A gene. This gene plays an important role in brain development, so when it does not work properly, it affects how the brain grows and functions. The condition is also sometimes called DYRK1A syndrome or DYRK1A haploinsufficiency syndrome. Children with this syndrome typically show developmental delays early in life, including delays in sitting, walking, and talking. Intellectual disability ranges from mild to severe, and many children have limited or absent speech. A characteristic facial appearance is common, including a small head (microcephaly), deep-set eyes, and a prominent nose. Many individuals also experience feeding difficulties in infancy, seizures, vision problems, and anxiety or behavioral challenges such as autism spectrum features. There is currently no cure for DYRK1A syndrome. Treatment focuses on managing symptoms and supporting development. This includes speech therapy, occupational therapy, physical therapy, behavioral support, and medications for seizures or behavioral issues when needed. Early intervention services can make a meaningful difference in a child's progress. Research into targeted therapies is ongoing, giving families hope for future treatment options.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech or absent speechSmall head size (microcephaly)Feeding difficulties in infancySeizures or epilepsyDelayed motor milestones like walkingDistinctive facial features including deep-set eyes and prominent noseAnxiety and behavioral difficultiesAutism-like behaviorsShort statureVision problems such as farsightedness or crossed eyesDifficulty with fine motor skills like writingLow muscle tone in infancyDifficulty gaining weight in early childhoodFoot abnormalities such as flat feet or toe walking
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 DYRK1A-related intellectual disability syndrome.
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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 DYRK1A-related 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 specific type of DYRK1A mutation does my child have, and does it affect the expected course of the condition?,What therapies should we start right away, and how often should they occur?,Should my child be evaluated for seizures even if none have been observed yet?,What communication tools or strategies do you recommend for children with limited speech?,Are there any clinical trials or research studies we should consider?,What specialists should be part of my child's care team, and how often should we see them?,What should I watch for as my child grows that might need medical attention?
Common questions about DYRK1A-related intellectual disability syndrome
What is DYRK1A-related intellectual disability syndrome?
DYRK1A-related intellectual disability syndrome is a rare genetic condition caused by changes (mutations) in the DYRK1A gene. This gene plays an important role in brain development, so when it does not work properly, it affects how the brain grows and functions. The condition is also sometimes called DYRK1A syndrome or DYRK1A haploinsufficiency syndrome. Children with this syndrome typically show developmental delays early in life, including delays in sitting, walking, and talking. Intellectual disability ranges from mild to severe, and many children have limited or absent speech. A character
How is DYRK1A-related intellectual disability syndrome inherited?
DYRK1A-related intellectual disability syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DYRK1A-related intellectual disability syndrome typically begin?
Typical onset of DYRK1A-related intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat DYRK1A-related intellectual disability syndrome?
16 specialists and care centers treating DYRK1A-related intellectual disability syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.