Overview
Intellectual disability-myopathy-short stature-endocrine defect syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to by its Orphanet designation (ORPHA:3068). People with this syndrome typically have intellectual disability (difficulty with learning, reasoning, and problem-solving), muscle weakness or disease (myopathy), noticeably short stature, and problems with the hormone-producing (endocrine) system. The endocrine issues can include problems with growth hormone, thyroid function, or other hormonal pathways, which may contribute to the short stature and delayed development seen in affected individuals. Because this condition is so rare, only a handful of cases have been described in the medical literature. The combination of intellectual disability, muscle problems, growth failure, and hormonal abnormalities together helps doctors distinguish this syndrome from other conditions that share some of these features individually. Diagnosis can be challenging and often requires input from multiple specialists. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing each symptom individually. This may include hormone replacement therapy for endocrine deficiencies, physical therapy and rehabilitation for muscle weakness, special education services for intellectual disability, and growth hormone therapy if a specific deficiency is identified. Early intervention and a coordinated care team can help improve quality of life for affected individuals.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesMuscle weakness (myopathy)Short stature or growth failureHormonal (endocrine) problemsDelayed motor milestonesDelayed speech and language developmentLow muscle tone (hypotonia)Fatigue or reduced staminaDifficulty with coordinationPossible thyroid dysfunctionPossible growth hormone deficiencyDifficulty gaining weight or poor feeding in infancy
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-myopathy-short stature-endocrine defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-myopathy-short stature-endocrine defect 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-myopathy-short stature-endocrine defect syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 hormone levels should be tested, and how often should they be rechecked?,Is genetic testing recommended for our family, and what type of test would be most useful?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Are there any signs of worsening muscle weakness I should watch for at home?,Would growth hormone therapy be appropriate, and what are the potential benefits and risks?,What educational supports or accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?
Common questions about Intellectual disability-myopathy-short stature-endocrine defect syndrome
What is Intellectual disability-myopathy-short stature-endocrine defect syndrome?
Intellectual disability-myopathy-short stature-endocrine defect syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. It is sometimes referred to by its Orphanet designation (ORPHA:3068). People with this syndrome typically have intellectual disability (difficulty with learning, reasoning, and problem-solving), muscle weakness or disease (myopathy), noticeably short stature, and problems with the hormone-producing (endocrine) system. The endocrine issues can include problems with growth hormone, thyroid function, or other hormonal pathways, which
How is Intellectual disability-myopathy-short stature-endocrine defect syndrome inherited?
Intellectual disability-myopathy-short stature-endocrine defect syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-myopathy-short stature-endocrine defect syndrome typically begin?
Typical onset of Intellectual disability-myopathy-short stature-endocrine defect syndrome is childhood. Age of onset can vary across affected individuals.