Overview
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, also known as Xia-Gibbs syndrome, is a rare genetic condition caused by changes (mutations) in the AHDC1 gene. This gene plays an important role in how the brain and body develop, especially before and after birth. The condition affects multiple parts of the body, but the brain and nervous system are most significantly impacted. People with this syndrome typically have intellectual disability, which can range from mild to severe. They often experience delays in reaching developmental milestones like talking and walking. Obstructive sleep apnea — a condition where breathing repeatedly stops and starts during sleep — is a hallmark feature. Many individuals also have mild differences in their facial features, low muscle tone (hypotonia), and behavioral challenges such as autism-like traits or anxiety. There is currently no cure for Xia-Gibbs syndrome. Treatment focuses on managing symptoms and supporting development. This includes speech therapy, physical therapy, occupational therapy, and treatment for sleep apnea. With the right support, many individuals can make meaningful progress in communication and daily skills. Early diagnosis and intervention are key to improving quality of life.
Also known as:
Key symptoms:
Intellectual disability (difficulty with learning and thinking)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingObstructive sleep apnea (breathing interruptions during sleep)Low muscle tone (floppiness, especially in infancy)Mild differences in facial featuresAutism-like behaviors or traitsAnxiety or behavioral challengesFeeding difficulties in infancyShort statureSeizures (in some individuals)Constipation or other digestive issues
Clinical phenotype terms (45)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for AHDC1-related intellectual disability-obstructive sleep apnea-mild 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 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome.
Community
No community posts yet. Be the first to share your experience with AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome.
Start the conversation →Latest news about AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
No recent news articles for AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism 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 genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,How severe is my child's sleep apnea, and what is the best treatment option for them?,What therapies should we start right away, and how often should they happen?,Are there any signs or symptoms I should watch for that would require an emergency visit?,What educational supports or special services should we request for my child?,Are there any clinical trials or research studies we could participate in?,What does the long-term outlook look like, and what support will my child need as they grow into adulthood?
Common questions about AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
What is AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome?
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, also known as Xia-Gibbs syndrome, is a rare genetic condition caused by changes (mutations) in the AHDC1 gene. This gene plays an important role in how the brain and body develop, especially before and after birth. The condition affects multiple parts of the body, but the brain and nervous system are most significantly impacted. People with this syndrome typically have intellectual disability, which can range from mild to severe. They often experience delays in reaching developmental milestones like talki
How is AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome inherited?
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome typically begin?
Typical onset of AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is infantile. Age of onset can vary across affected individuals.