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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

Mueller M, Lewis DJ
Ther Innov Regul Sci 2021 Nov;55(6):1155-1164. Epub 2021 Jul 30 doi: 10.1007/s43441-021-00327-3. PMID: 34331266
Matyskiela ME, Couto S, Zheng X, Lu G, Hui J, Stamp K, Drew C, Ren Y, Wang M, Carpenter A, Lee CW, Clayton T, Fang W, Lu CC, Riley M, Abdubek P, Blease K, Hartke J, Kumar G, Vessey R, Rolfe M, Hamann LG, Chamberlain PP
Nat Chem Biol 2018 Oct;14(10):981-987. Epub 2018 Sep 6 doi: 10.1038/s41589-018-0129-x. PMID: 30190590
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
Parsa CF, Robert MP
JAMA Ophthalmol 2013 Apr;131(4):439-47. doi: 10.1001/jamaophthalmol.2013.1111. PMID: 23710497
Lary JM, Daniel KL, Erickson JD, Roberts HE, Moore CA
Drug Saf 1999 Sep;21(3):161-9. doi: 10.2165/00002018-199921030-00002. PMID: 10487395

Diagnosis

Kusuma VRM, Ashton A, Moschanos D, Patil K, Perry M
J Robot Surg 2018 Jun;12(2):373-376. Epub 2017 Aug 28 doi: 10.1007/s11701-017-0739-4. PMID: 28849319
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C
Int J Dev Neurosci 2005 Apr-May;23(2-3):201-19. doi: 10.1016/j.ijdevneu.2004.06.007. PMID: 15749246
Trottier G, Srivastava L, Walker CD
J Psychiatry Neurosci 1999 Mar;24(2):103-15. PMID: 10212552Free PMC Article
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

Therapy

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
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C
Int J Dev Neurosci 2005 Apr-May;23(2-3):201-19. doi: 10.1016/j.ijdevneu.2004.06.007. PMID: 15749246
Lary JM, Daniel KL, Erickson JD, Roberts HE, Moore CA
Drug Saf 1999 Sep;21(3):161-9. doi: 10.2165/00002018-199921030-00002. PMID: 10487395
Ruffing L
Birth Defects Orig Artic Ser 1977;13(1):287-300. PMID: 856326

Prognosis

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
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
Schäfer KH, Kramer M
Eur J Pediatr 1987 Jan;146(1):63-7. doi: 10.1007/BF00647288. PMID: 3582407
Takemori S, Tanaka Y, Suzuki JI
Arch Otolaryngol 1976 Jul;102(7):425-7. doi: 10.1001/archotol.1976.00780120073010. PMID: 180947
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

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
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
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
Friedman JM
Birth Defects Res A Clin Mol Teratol 2012 Aug;94(8):670-6. Epub 2012 Jul 11 doi: 10.1002/bdra.23043. PMID: 22786781
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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