thalidomide embryopathy
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0016677
toxic or drug-related embryofetopathy
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MONDO:0018234
dysostosis
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MONDO:0019054
congenital limb malformation
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fetal thalidomide syndrome
exact
foetal thalidomide syndrome
exact
thalidomide embryopathy syndrome
exact
thalidomide-induced birth defect
exact