Overview
X-linked intellectual disability, Cilliers type (also known as Cilliers syndrome) is an extremely rare genetic condition that primarily affects males. It was first described by Dr. Cilliers and is characterized by intellectual disability combined with distinctive physical features. The condition is caused by a change on the X chromosome, which is why it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. Key features of this condition include intellectual disability that can range from mild to severe, along with characteristic facial features and possible skeletal abnormalities. Some individuals may also have growth delays and other developmental differences. Because the condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms is not completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This typically includes special education services, speech therapy, occupational therapy, and physical therapy as needed. Early intervention programs can help children reach their full potential. Regular follow-up with a team of specialists is important to monitor development and address any new concerns as they arise.
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDistinctive facial featuresGrowth delaysDelayed motor milestones such as sitting and walkingSkeletal abnormalitiesLearning difficultiesBehavioral challengesLow muscle tonePossible seizures
Clinical phenotype terms (25)— hover any for plain English
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, Cilliers type.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability, Cilliers type.
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, Cilliers type.
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 is the severity of my child's intellectual disability, and what level of support will they need?,What therapies should we start right away, and how often should they occur?,Should we pursue genetic testing to try to identify the exact gene involved?,Is there a risk of seizures, and what should I watch for?,What educational programs or early intervention services do you recommend?,What is the chance that future children in our family could be affected?,Are there any clinical trials or research studies we should know about?
Common questions about X-linked intellectual disability, Cilliers type
What is X-linked intellectual disability, Cilliers type?
X-linked intellectual disability, Cilliers type (also known as Cilliers syndrome) is an extremely rare genetic condition that primarily affects males. It was first described by Dr. Cilliers and is characterized by intellectual disability combined with distinctive physical features. The condition is caused by a change on the X chromosome, which is why it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. Key features of this condition include intellectual disability that can range from mild to severe, along with characteristic f
How is X-linked intellectual disability, Cilliers type inherited?
X-linked intellectual disability, Cilliers type 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, Cilliers type typically begin?
Typical onset of X-linked intellectual disability, Cilliers type is infantile. Age of onset can vary across affected individuals.