Overview
X-linked intellectual disability-hypotonic face syndrome (also sometimes called Maat-Kievit-Brunner syndrome or MRXS10) is a rare genetic condition that mainly affects males. It is caused by changes in a gene on the X chromosome, which means it is passed down through families in an X-linked pattern. The condition primarily affects brain development and muscle tone, especially in the muscles of the face. People with this syndrome typically have intellectual disability, which can range from mild to moderate. They also tend to have a characteristic facial appearance with reduced muscle tone, meaning the face may look softer or less firm than usual. Other features can include delayed speech and language development, behavioral challenges, and sometimes seizures. Because the gene involved sits on the X chromosome, males are usually more severely affected than females, who may carry the gene change without showing major symptoms. There is currently no cure for this condition. Treatment focuses on supporting development and managing symptoms. This includes speech therapy, occupational therapy, physical therapy, special education programs, and medication to control seizures if they occur. Early intervention is very important and can make a meaningful difference in a child's development and quality of life.
Key symptoms:
Intellectual disability (mild to moderate learning difficulties)Low muscle tone in the face (hypotonic facies)Delayed speech and language developmentDelayed walking and motor milestonesBehavioral challenges such as hyperactivity or aggressionSeizures in some individualsDistinctive facial features including a soft or relaxed facial appearanceShort stature in some casesFeeding 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 X-linked intellectual disability-hypotonic face syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-hypotonic face 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 X-linked intellectual disability-hypotonic face 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 change was found in the MED12 gene, and what does it mean for my child's future?,Should other family members be tested, and what are the chances of this happening in future pregnancies?,What therapies should we start right away, and how often should they happen?,Is my child at risk for seizures, and what should I do if one occurs?,What educational supports or special programs should we ask for at school?,Are there any clinical trials or research studies we could consider joining?,What signs should prompt me to bring my child in urgently or go to the emergency room?
Common questions about X-linked intellectual disability-hypotonic face syndrome
What is X-linked intellectual disability-hypotonic face syndrome?
X-linked intellectual disability-hypotonic face syndrome (also sometimes called Maat-Kievit-Brunner syndrome or MRXS10) is a rare genetic condition that mainly affects males. It is caused by changes in a gene on the X chromosome, which means it is passed down through families in an X-linked pattern. The condition primarily affects brain development and muscle tone, especially in the muscles of the face. People with this syndrome typically have intellectual disability, which can range from mild to moderate. They also tend to have a characteristic facial appearance with reduced muscle tone, mea
How is X-linked intellectual disability-hypotonic face syndrome inherited?
X-linked intellectual disability-hypotonic face syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked intellectual disability-hypotonic face syndrome typically begin?
Typical onset of X-linked intellectual disability-hypotonic face syndrome is infantile. Age of onset can vary across affected individuals.