Overview
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have intellectual disability (difficulty with learning and thinking skills), muscle weakness, shorter-than-expected height, and distinctive facial features. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences in facial structure. Muscle weakness can range from mild to moderate and may affect motor development, meaning children may take longer to reach milestones like sitting, crawling, and walking. Short stature is usually noticeable from early childhood. Intellectual disability can vary in severity but often affects speech and language development as well as learning abilities. Because this condition is so rare, the treatment landscape is currently limited to supportive and symptomatic care. There is no cure at this time. Management typically involves a team of specialists who address each symptom individually, including physical therapy for muscle weakness, special education support for learning difficulties, and regular monitoring of growth. Early intervention programs can help children reach their full potential. Research into the genetic causes of this syndrome is ongoing, and understanding the specific gene or genes involved may eventually lead to more targeted treatments.
Key symptoms:
Intellectual disability or learning difficultiesMuscle weaknessShort stature or poor growthDistinctive facial featuresDelayed motor milestones such as walkingSpeech and language delaysBroad foreheadWidely spaced eyesFlat nasal bridgeLow muscle tone (feeling floppy)Feeding difficulties in infancyDelayed development overall
Clinical phenotype terms (24)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-muscle weakness-short stature-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-muscle weakness-short stature-facial dysmorphism syndrome.
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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 genetic testing should my child have to confirm this diagnosis?,What therapies should we start right away to support my child's development?,How often should my child be seen by each specialist?,Is growth hormone therapy something we should consider?,What should I watch for that would require urgent medical attention?,Are there any clinical trials or research studies my child could participate in?,What educational supports and resources are available for my child?
Common questions about Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
What is Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome?
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have intellectual disability (difficulty with learning and thinking skills), muscle weakness, shorter-than-expected height, and distinctive facial features. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences in facial structure. Muscle weakness can range from mild to moderate and may affect motor development, mean
How is Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome inherited?
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome typically begin?
Typical onset of Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome is infantile. Age of onset can vary across affected individuals.