Overview
Epilepsy-microcephaly-skeletal dysplasia syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain and bones. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1948). Children born with this condition typically have a smaller-than-normal head size (microcephaly), which reflects underdevelopment of the brain. This leads to seizures (epilepsy) that often begin early in life and can be difficult to control. The skeletal dysplasia component means that bone development is abnormal, which can result in short stature, unusual bone shapes, and other skeletal abnormalities. Because this syndrome affects the brain significantly, children usually experience intellectual disability and developmental delays, meaning they may be slow to reach milestones like sitting, walking, and talking. Seizures can vary in type and severity but are a hallmark feature of the condition. The skeletal problems may affect the limbs, spine, or other parts of the skeleton, sometimes causing joint stiffness or unusual body proportions. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, supporting development through therapies, and addressing orthopedic issues as they arise. Because the condition is so rare, much of the medical knowledge comes from a very small number of reported cases, and management is highly individualized based on each patient's specific needs.
Also known as:
Key symptoms:
Smaller than normal head size (microcephaly)Seizures (epilepsy)Intellectual disabilityDelayed development of motor skillsShort statureAbnormal bone developmentDelayed speech and languageJoint stiffness or contracturesAbnormal facial featuresLow muscle tone in infancyFeeding difficulties in early lifeLimb abnormalities
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Epilepsy-microcephaly-skeletal dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Epilepsy-microcephaly-skeletal dysplasia 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 Epilepsy-microcephaly-skeletal dysplasia syndrome.
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 type of seizures does my child have, and what is the best medication to control them?,Should we pursue genetic testing, and what type of testing do you recommend?,What developmental therapies would benefit my child the most right now?,Are there any clinical trials or research studies that my child might be eligible for?,What should I do if my child has a seizure that lasts longer than usual?,How often should we schedule follow-up appointments with each specialist?,What is the long-term outlook for my child, and how can we plan for their future care needs?
Common questions about Epilepsy-microcephaly-skeletal dysplasia syndrome
What is Epilepsy-microcephaly-skeletal dysplasia syndrome?
Epilepsy-microcephaly-skeletal dysplasia syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain and bones. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1948). Children born with this condition typically have a smaller-than-normal head size (microcephaly), which reflects underdevelopment of the brain. This leads to seizures (epilepsy) that often begin early in life and can be difficult to control. The skeletal dysplasia component means that bone development is abnormal, which can result in short stature, unusual bon
How is Epilepsy-microcephaly-skeletal dysplasia syndrome inherited?
Epilepsy-microcephaly-skeletal dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epilepsy-microcephaly-skeletal dysplasia syndrome typically begin?
Typical onset of Epilepsy-microcephaly-skeletal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.