Thalidomide embryopathy

Orpha code: 3312OMIM code:

Definicja

Thalidomide embryopathy is a group of anomalies presented in infants as a result of <i>in utero</i> 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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Fetal thalidomide syndrome
Płodowy zespół talomidowy
Kod ORPHA
3312
Kod OMIM
-
Kod ICD10
Q86.8
Kod ICD11
LD2F.0Y

No additional description.

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