Overview
Acitretin/etretinate embryopathy is a rare condition that occurs when a baby is exposed to certain vitamin A-related medications — specifically acitretin or etretinate — while still in the womb. These drugs are powerful treatments for severe skin conditions like psoriasis, but they can cause serious birth defects if a pregnant person takes them during pregnancy. The condition is also sometimes called retinoid embryopathy when caused by this class of drugs. When a developing baby is exposed to these medications, especially during the first trimester, it can affect the formation of many body systems. The most commonly affected areas include the brain, face, ears, heart, and limbs. Babies may be born with structural differences in the skull and brain, hearing problems, heart defects, and differences in how their arms or legs developed. There is no cure for the birth defects caused by this exposure. Treatment focuses on managing each individual problem the child has — for example, surgery for heart defects, hearing aids or cochlear implants for hearing loss, and therapies to support development. Prevention is the most important strategy, which is why acitretin and etretinate come with strict pregnancy prevention programs. Women who have taken etretinate may carry the drug in their body fat for years, meaning the risk can persist long after stopping the medication.
Also known as:
Key symptoms:
Abnormal skull shape or underdevelopment of the skull bonesBrain malformations, including problems with brain structureSmall or absent ears, or ears that are not formed correctlyHearing loss or deafnessHeart defects present at birthCleft palate or differences in facial structureShort or missing limb bonesExtra fingers or toes, or fused fingers or toesEye abnormalitiesIntellectual disability or developmental delaysSpinal cord or vertebral abnormalitiesThymus gland problems affecting the immune system
Clinical phenotype terms (27)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Acitretin/etretinate embryopathy.
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Specialists
View all specialists →No specialists are currently listed for Acitretin/etretinate embryopathy.
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 Acitretin/etretinate embryopathy.
Community
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which organs or body systems are affected in my child, and how severe is each problem?,What specialists does my child need to see, and how often?,Are there surgeries or procedures that could correct any of my child's structural differences?,What early intervention or therapy services should we start right away?,What should I watch for at home that would mean my child needs emergency care?,What is the likely long-term outlook for my child's development and independence?,Are there support groups or resources for families dealing with retinoid embryopathy?
Common questions about Acitretin/etretinate embryopathy
What is Acitretin/etretinate embryopathy?
Acitretin/etretinate embryopathy is a rare condition that occurs when a baby is exposed to certain vitamin A-related medications — specifically acitretin or etretinate — while still in the womb. These drugs are powerful treatments for severe skin conditions like psoriasis, but they can cause serious birth defects if a pregnant person takes them during pregnancy. The condition is also sometimes called retinoid embryopathy when caused by this class of drugs. When a developing baby is exposed to these medications, especially during the first trimester, it can affect the formation of many body sy
How is Acitretin/etretinate embryopathy inherited?
Acitretin/etretinate embryopathy follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acitretin/etretinate embryopathy typically begin?
Typical onset of Acitretin/etretinate embryopathy is neonatal. Age of onset can vary across affected individuals.