Disease & disorder

thalidomide embryopathy

MONDO:0018034

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.

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Background context

Thalidomide scandal

In the late 1950s and early 1960s, thalidomide was prescribed to women in 46 countries who were pregnant or who subsequently became pregnant, and consequently resulted in the "biggest anthropogenic medical disaster ever," with more than 10,000 children born with a range of severe deformities, such as phocomelia, as well as thousands of miscarriages. Thalidomide was introduced in 1957 as a tranquilizer, and was later marketed by the West German pharmaceutical company Chemie Grünenthal under the trade name Contergan as a medication for anxiety, trouble sleeping, tension, and morning sickness. It was introduced as a sedative and medication for morning sickness without having been tested on pregnant women. While initially deemed to be safe in pregnancy, the link between birth defects and thalidomide was presented in November 1961 by Widukind Lenz, and the medication was removed from the market in Europe before the end of the year.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.