Overview
Propylthiouracil embryofetopathy (also called PTU embryofetopathy or propylthiouracil-induced fetal syndrome) is a rare condition that occurs when a developing baby is exposed to the drug propylthiouracil (PTU) during pregnancy. PTU is a medication used to treat an overactive thyroid gland (hyperthyroidism) in the mother. While PTU can be necessary to protect the mother's health, in some cases it can cross the placenta and affect the baby's development in the womb. The condition mainly affects the development of the urinary tract and kidneys, as well as the face and scalp. Babies born with this condition may have structural problems with the kidneys or the tubes that carry urine, unusual facial features, or scalp abnormalities. The severity can vary widely from one child to another, ranging from mild to more serious structural differences. There is no specific cure for propylthiouracil embryofetopathy. Treatment focuses on managing the individual problems a child is born with, such as surgery to correct urinary tract abnormalities or other supportive care. Early detection through prenatal ultrasound and close follow-up after birth are important parts of care. Families are encouraged to work with a team of specialists to address each child's unique needs.
Key symptoms:
Kidney abnormalities (such as cysts or structural problems)Urinary tract malformationsScalp defects (areas where the skin on the scalp did not form properly)Unusual facial featuresChoanal atresia (blocked nasal passages)Ear abnormalitiesSkin abnormalities on the head or faceProblems with the structure of the ureter (the tube connecting kidney to bladder)
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 Propylthiouracil embryofetopathy.
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Specialists
View all specialists →No specialists are currently listed for Propylthiouracil embryofetopathy.
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 Propylthiouracil embryofetopathy.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
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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.Which organs are affected in my child, and how serious are the problems?,Does my child need surgery, and if so, when?,How often should my child's kidney function be checked, and what signs of problems should I watch for at home?,Are there any dietary changes or activity restrictions my child needs?,Could this condition affect my child's development or school performance?,Is there any risk of this happening again in a future pregnancy, and what alternatives to PTU exist?,Are there any support groups or resources for families dealing with this condition?
Common questions about Propylthiouracil embryofetopathy
What is Propylthiouracil embryofetopathy?
Propylthiouracil embryofetopathy (also called PTU embryofetopathy or propylthiouracil-induced fetal syndrome) is a rare condition that occurs when a developing baby is exposed to the drug propylthiouracil (PTU) during pregnancy. PTU is a medication used to treat an overactive thyroid gland (hyperthyroidism) in the mother. While PTU can be necessary to protect the mother's health, in some cases it can cross the placenta and affect the baby's development in the womb. The condition mainly affects the development of the urinary tract and kidneys, as well as the face and scalp. Babies born with th
How is Propylthiouracil embryofetopathy inherited?
Propylthiouracil embryofetopathy follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Propylthiouracil embryofetopathy typically begin?
Typical onset of Propylthiouracil embryofetopathy is neonatal. Age of onset can vary across affected individuals.