Overview
Intellectual disability-expressive aphasia-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development, speech, and facial features. The syndrome is caused by changes in the KIAA2022 gene (also known as NEXMIF), which plays an important role in how the brain develops and functions. People with this condition typically have intellectual disability that ranges from mild to severe, along with significant difficulty producing speech (called expressive aphasia), meaning they may understand language much better than they can speak it. Facial features may include a long face, prominent forehead, widely spaced eyes, a broad nasal bridge, and a thin upper lip, though these features can vary from person to person. Other common features can include seizures, behavioral challenges such as autism spectrum traits, and delays in reaching developmental milestones like sitting, walking, and talking. Some individuals may also experience problems with muscle tone and coordination. Because this is an X-linked condition, it primarily affects males more severely, while females who carry the gene change may have milder symptoms or sometimes no symptoms at all. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting development. This includes speech therapy, occupational therapy, physical therapy, special education services, and medications to control seizures if they occur. Early intervention with therapies can help individuals reach their best potential.
Also known as:
Key symptoms:
Intellectual disability ranging from mild to severeDifficulty speaking or producing words (expressive aphasia)Delayed developmental milestonesSeizures or epilepsyUnusual facial features such as a long face and prominent foreheadWidely spaced eyesBroad nasal bridgeThin upper lipLow muscle toneBehavioral challenges including autism-like traitsDifficulty with coordination and balanceAttention problemsAnxiety or mood difficultiesFeeding difficulties in infancy
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-expressive aphasia-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-expressive aphasia-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-expressive aphasia-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
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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 is the specific genetic change found, and what does it mean for my child's development?,What therapies should we start right away, and how often should they occur?,Is my child at risk for seizures, and what should I watch for?,Are there other family members who should be tested for this gene change?,What communication tools or devices might help my child express themselves?,Are there any clinical trials or research studies we could participate in?,What educational supports and services is my child entitled to?
Common questions about Intellectual disability-expressive aphasia-facial dysmorphism syndrome
What is Intellectual disability-expressive aphasia-facial dysmorphism syndrome?
Intellectual disability-expressive aphasia-facial dysmorphism syndrome is an extremely rare genetic condition that affects brain development, speech, and facial features. The syndrome is caused by changes in the KIAA2022 gene (also known as NEXMIF), which plays an important role in how the brain develops and functions. People with this condition typically have intellectual disability that ranges from mild to severe, along with significant difficulty producing speech (called expressive aphasia), meaning they may understand language much better than they can speak it. Facial features may include
How is Intellectual disability-expressive aphasia-facial dysmorphism syndrome inherited?
Intellectual disability-expressive aphasia-facial dysmorphism syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-expressive aphasia-facial dysmorphism syndrome typically begin?
Typical onset of Intellectual disability-expressive aphasia-facial dysmorphism syndrome is infantile. Age of onset can vary across affected individuals.