U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thalidomide embryopathy

MedGen UID:
98490
Concept ID:
C0432365
Congenital Abnormality
Synonym: Fetal thalidomide syndrome
SNOMED CT: Congenital malformation due to thalidomide (36193003); Fetal thalidomide syndrome (36193003); Thalidomide embryopathy syndrome (36193003); Wiedemann's syndrome (36193003); Lenz's syndrome (36193003)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018034
Orphanet: ORPHA3312

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThalidomide embryopathy
Follow this link to review classifications for Thalidomide embryopathy in Orphanet.

Professional guidelines

PubMed

Rengel BD, Kowalski TW, Bremm JM, do Amaral Gomes J, Schüler-Faccini L, Vianna FSL, Fraga LR
Birth Defects Res 2022 Dec 1;114(20):1354-1363. Epub 2022 Sep 30 doi: 10.1002/bdr2.2092. PMID: 36177858

Recent clinical studies

Etiology

Imai K, Sone H, Otomo K, Nakano Y, Hinoshita F
Mol Genet Genomic Med 2020 Nov;8(11):e1464. Epub 2020 Sep 6 doi: 10.1002/mgg3.1464. PMID: 32893502Free PMC Article
Gomes JDA, Kowalski TW, Fraga LR, Tovo-Rodrigues L, Sanseverino MTV, Schuler-Faccini L, Vianna FSL
Birth Defects Res 2018 Mar 15;110(5):456-461. Epub 2017 Nov 28 doi: 10.1002/bdr2.1163. PMID: 29193903
Vianna FS, Kowalski TW, Tovo-Rodrigues L, Tagliani-Ribeiro A, Godoy BA, Fraga LR, Sanseverino MT, Hutz MH, Schuler-Faccini L
Reprod Toxicol 2016 Dec;66:99-106. Epub 2016 Oct 14 doi: 10.1016/j.reprotox.2016.10.003. PMID: 27751757
Kowalski TW, Sanseverino MT, Schuler-Faccini L, Vianna FS
Birth Defects Res A Clin Mol Teratol 2015 Sep;103(9):794-803. Epub 2015 Jun 4 doi: 10.1002/bdra.23376. PMID: 26043318
Miller MT, Strömland K, Ventura L
Trans Am Ophthalmol Soc 2008;106:100-15; discussion 115-6. PMID: 19277226Free PMC Article

Diagnosis

Kowalski TW, Gomes JDA, Garcia GBC, Fraga LR, Paixao-Cortes VR, Recamonde-Mendoza M, Sanseverino MTV, Schuler-Faccini L, Vianna FSL
Sci Rep 2020 Jan 21;10(1):851. doi: 10.1038/s41598-020-57512-x. PMID: 31964914Free PMC Article
Mansour S, Baple E, Hall CM
J Hand Surg Eur Vol 2019 Jan;44(1):96-108. Epub 2018 Sep 25 doi: 10.1177/1753193418800631. PMID: 30253685
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
Kowalski TW, Sanseverino MT, Schuler-Faccini L, Vianna FS
Birth Defects Res A Clin Mol Teratol 2015 Sep;103(9):794-803. Epub 2015 Jun 4 doi: 10.1002/bdra.23376. PMID: 26043318
Miller MT, Strömland K, Ventura L
Trans Am Ophthalmol Soc 2008;106:100-15; discussion 115-6. PMID: 19277226Free PMC Article

Therapy

Imai K, Sone H, Otomo K, Nakano Y, Hinoshita F
Mol Genet Genomic Med 2020 Nov;8(11):e1464. Epub 2020 Sep 6 doi: 10.1002/mgg3.1464. PMID: 32893502Free PMC Article
Gao S, Wang S, Fan R, Hu J
Biomed Pharmacother 2020 Jul;127:110114. Epub 2020 Apr 15 doi: 10.1016/j.biopha.2020.110114. PMID: 32304852
Kowalski TW, Sanseverino MT, Schuler-Faccini L, Vianna FS
Birth Defects Res A Clin Mol Teratol 2015 Sep;103(9):794-803. Epub 2015 Jun 4 doi: 10.1002/bdra.23376. PMID: 26043318
Sales Luiz Vianna F, de Oliveira MZ, Sanseverino MT, Morelo EF, de Lyra Rabello Neto D, Lopez-Camelo J, Camey SA, Schuler-Faccini L
Reprod Toxicol 2015 Jun;53:63-7. Epub 2015 Mar 28 doi: 10.1016/j.reprotox.2015.03.007. PMID: 25828060
McBride WG
Teratology 1977 Aug;16(1):79-82. doi: 10.1002/tera.1420160113. PMID: 331548

Prognosis

Markiewicz M, Stirling P, Brennan S, Hooper G, Lam W
J Hand Surg Eur Vol 2023 Sep;48(8):773-780. Epub 2023 Apr 6 doi: 10.1177/17531934231164093. PMID: 37021538Free PMC Article
Rengel BD, Kowalski TW, Bremm JM, do Amaral Gomes J, Schüler-Faccini L, Vianna FSL, Fraga LR
Birth Defects Res 2022 Dec 1;114(20):1354-1363. Epub 2022 Sep 30 doi: 10.1002/bdr2.2092. PMID: 36177858
Sundaresan L, Kumar P, Manivannan J, Balaguru UM, Kasiviswanathan D, Veeriah V, Anishetty S, Chatterjee S
Chem Res Toxicol 2019 Apr 15;32(4):589-602. Epub 2019 Mar 15 doi: 10.1021/acs.chemrestox.8b00286. PMID: 30834740
Kowalski TW, Sanseverino MT, Schuler-Faccini L, Vianna FS
Birth Defects Res A Clin Mol Teratol 2015 Sep;103(9):794-803. Epub 2015 Jun 4 doi: 10.1002/bdra.23376. PMID: 26043318
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA
Medicine (Baltimore) 1969 Nov;48(6):411-39. doi: 10.1097/00005792-196948060-00001. PMID: 4951233

Clinical prediction guides

Rengel BD, Kowalski TW, Bremm JM, do Amaral Gomes J, Schüler-Faccini L, Vianna FSL, Fraga LR
Birth Defects Res 2022 Dec 1;114(20):1354-1363. Epub 2022 Sep 30 doi: 10.1002/bdr2.2092. PMID: 36177858
Imai K, Sone H, Otomo K, Nakano Y, Hinoshita F
Mol Genet Genomic Med 2020 Nov;8(11):e1464. Epub 2020 Sep 6 doi: 10.1002/mgg3.1464. PMID: 32893502Free PMC Article
Kowalski TW, Gomes JDA, Garcia GBC, Fraga LR, Paixao-Cortes VR, Recamonde-Mendoza M, Sanseverino MTV, Schuler-Faccini L, Vianna FSL
Sci Rep 2020 Jan 21;10(1):851. doi: 10.1038/s41598-020-57512-x. PMID: 31964914Free PMC Article
Mansour S, Baple E, Hall CM
J Hand Surg Eur Vol 2019 Jan;44(1):96-108. Epub 2018 Sep 25 doi: 10.1177/1753193418800631. PMID: 30253685
Kowalski TW, Sanseverino MT, Schuler-Faccini L, Vianna FS
Birth Defects Res A Clin Mol Teratol 2015 Sep;103(9):794-803. Epub 2015 Jun 4 doi: 10.1002/bdra.23376. PMID: 26043318

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...