thalidomide embryopathy
Findings
No curated finding names thalidomide embryopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
Definition from the Mondo Disease Ontology (MONDO:0018034), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
- Aplasia/hypoplasia of the femurHPOHP:0005613
- Frequent (30% to 79% of cases)
- Aplasia/hypoplasia of the humerusHPOHP:0006507
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the ulna
Where it sits
Other names
4 names
Resolves to: thalidomide embryopathy
- Also called
- fetal thalidomide syndromefoetal thalidomide syndromethalidomide embryopathy syndromethalidomide-induced birth defect