Fetal anticonvulsant syndrome

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Overview

Fetal anticonvulsant syndrome (also called fetal antiepileptic drug syndrome or fetal valproate syndrome when caused specifically by valproate) is a condition that affects babies who were exposed to certain anti-seizure medications (anticonvulsants) during pregnancy. It is not an inherited genetic disease but rather a pattern of birth defects and developmental problems caused by the effects of these medications on the developing baby in the womb. The most commonly implicated drug is valproic acid (also known as sodium valproate or Depakote), though other anticonvulsants such as phenytoin, carbamazepine, and phenobarbital have also been associated with similar effects. The syndrome can affect many parts of the body. Common features include distinctive facial characteristics (such as a thin upper lip, small nose, and wide-set eyes), heart defects, spina bifida and other neural tube defects, skeletal abnormalities, and problems with the urinary tract. Many children also experience developmental delays, learning difficulties, and behavioral challenges including features of autism spectrum disorder. The severity varies widely from person to person — some individuals are mildly affected while others have significant physical and intellectual disabilities. There is no cure for fetal anticonvulsant syndrome, and treatment focuses on managing individual symptoms. This may include surgery for heart or spinal defects, physical therapy, occupational therapy, speech therapy, and educational support. Early intervention programs are very important for improving outcomes. Prevention is key, and women of childbearing age who take anticonvulsants should discuss pregnancy planning with their doctors to explore safer medication options.

Also known as:

Key symptoms:

Distinctive facial features such as thin upper lip, small nose, and wide-set eyesSpina bifida or other neural tube defectsHeart defects present at birthCleft lip or cleft palateSkeletal abnormalities including limb defectsDevelopmental delays in walking and talkingLearning difficulties and intellectual disabilityBehavioral problems including attention difficultiesFeatures of autism spectrum disorderLow muscle tone in infancyUrinary tract or kidney abnormalitiesPoor feeding in infancyJoint hypermobility or lax jointsGrowth problems or short statureHearing problems

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Fetal anticonvulsant syndrome.

View clinical trials →

No actively recruiting trials found for Fetal anticonvulsant syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Fetal anticonvulsant syndrome community →

No specialists are currently listed for Fetal anticonvulsant syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Fetal anticonvulsant syndrome.

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Community

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Latest news about Fetal anticonvulsant syndrome

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific features of fetal anticonvulsant syndrome does my child have, and how severe are they?,What specialists should my child see, and how often?,What early intervention therapies would benefit my child the most right now?,Are there any heart, spine, or organ problems that need surgical treatment?,What educational support should I request for my child at school?,How can I monitor my child's development at home, and what warning signs should I watch for?,If I am planning another pregnancy, what steps can I take to reduce the risk of this happening again?

Common questions about Fetal anticonvulsant syndrome

What is Fetal anticonvulsant syndrome?

Fetal anticonvulsant syndrome (also called fetal antiepileptic drug syndrome or fetal valproate syndrome when caused specifically by valproate) is a condition that affects babies who were exposed to certain anti-seizure medications (anticonvulsants) during pregnancy. It is not an inherited genetic disease but rather a pattern of birth defects and developmental problems caused by the effects of these medications on the developing baby in the womb. The most commonly implicated drug is valproic acid (also known as sodium valproate or Depakote), though other anticonvulsants such as phenytoin, carb

How is Fetal anticonvulsant syndrome inherited?

Fetal anticonvulsant syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Fetal anticonvulsant syndrome typically begin?

Typical onset of Fetal anticonvulsant syndrome is neonatal. Age of onset can vary across affected individuals.