Overview
X-linked intellectual disability-short stature-overweight syndrome is a very rare genetic condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which is one of the two sex chromosomes. Because of this X-linked pattern, boys and men are more severely affected, while females who carry the mutation may have milder symptoms or no symptoms at all. The main features of this syndrome include intellectual disability (which can range from mild to moderate), shorter-than-expected height for age, and a tendency toward being overweight or obese. Children with this condition may show delays in reaching developmental milestones such as walking and talking. Some individuals may also have distinctive facial features and behavioral challenges. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This typically includes special education services, speech and occupational therapy, dietary management to address weight concerns, and monitoring growth. Early intervention programs can help children reach their full potential. A team of specialists usually works together to provide the best care for affected individuals.
Key symptoms:
Intellectual disability (difficulty with learning and reasoning)Short stature (shorter than expected for age)Being overweight or obeseDelayed speech and language developmentDelayed motor milestones (such as walking)Behavioral difficultiesDistinctive facial featuresDifficulty with coordinationFeeding difficulties in early childhoodLow muscle tone in infancy
Clinical phenotype terms (37)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-short stature-overweight syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked intellectual disability-short stature-overweight syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-short stature-overweight 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-short stature-overweight syndrome.
Community
No community posts yet. Be the first to share your experience with X-linked intellectual disability-short stature-overweight syndrome.
Start the conversation →Latest news about X-linked intellectual disability-short stature-overweight syndrome
No recent news articles for X-linked intellectual disability-short stature-overweight 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 specific genetic change is causing my child's condition, and what does it mean?,What therapies and early intervention services do you recommend starting right away?,How can we best manage my child's weight and growth?,What educational supports should we request at school?,Are there any clinical trials or research studies we should know about?,What is the chance that future children could also be affected?,What specialists should be part of my child's care team going forward?
Common questions about X-linked intellectual disability-short stature-overweight syndrome
What is X-linked intellectual disability-short stature-overweight syndrome?
X-linked intellectual disability-short stature-overweight syndrome is a very rare genetic condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which is one of the two sex chromosomes. Because of this X-linked pattern, boys and men are more severely affected, while females who carry the mutation may have milder symptoms or no symptoms at all. The main features of this syndrome include intellectual disability (which can range from mild to moderate), shorter-than-expected height for age, and a tendency toward being overweight or obese
How is X-linked intellectual disability-short stature-overweight syndrome inherited?
X-linked intellectual disability-short stature-overweight 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-short stature-overweight syndrome typically begin?
Typical onset of X-linked intellectual disability-short stature-overweight syndrome is childhood. Age of onset can vary across affected individuals.