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Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for propylthiouracil embryofetopathy.
2 publications have been identified in PubMed for propylthiouracil embryofetopathy. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).
Mirshekar MA (2024). [PMID: 39262436](https://pubmed.ncbi.nlm.nih.gov/39262436/). *Int J Clin Exp Pathol*. [Epidemiology / Natural History]
Dos Anjos Cordeiro JM (2024). [PMID: 38870780](https://pubmed.ncbi.nlm.nih.gov/38870780/). *Redox Biol*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:39 AM UTC
European rare disease database