U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ectromelia

MedGen UID:
3966
Concept ID:
C0013589
Congenital Abnormality
Synonyms: Congenital Limb Reduction Deformities; Congenital Limb Reduction Deformity
SNOMED CT: Ectromelia (43036001)

Definition

A congenital defect characterized by the absence or hypoplasia of one or more extremities. [from NCI]

Professional guidelines

PubMed

Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Achdout H, Lustig S, Israely T, Erez N, Politi B, Tamir H, Israeli O, Waner T, Melamed S, Paran N
Vaccine 2017 Jul 24;35(33):4245-4254. Epub 2017 Jun 20 doi: 10.1016/j.vaccine.2017.06.014. PMID: 28625523

Recent clinical studies

Etiology

Justman S
J R Coll Physicians Edinb 2024 Jun;54(2):161-164. Epub 2024 May 28 doi: 10.1177/14782715241258503. PMID: 38807349
Shojaee A, Ronnasian F, Behnam M, Salehi M
J Med Case Rep 2021 Apr 26;15(1):217. doi: 10.1186/s13256-021-02699-4. PMID: 33902682Free PMC Article
Lewis G, Millett P, Sandberg A, Snyder-Beattie A, Gronvall G
Risk Anal 2019 May;39(5):975-981. Epub 2018 Nov 12 doi: 10.1111/risa.13235. PMID: 30419157Free PMC Article
Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D
Ann N Y Acad Sci 2017 Dec;1409(1):67-78. Epub 2017 Oct 9 doi: 10.1111/nyas.13440. PMID: 28990185Free PMC Article
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660

Diagnosis

Georgescu T, Ionescu O, Toader OD, Bacalbasa N, Pop LG
J Med Life 2022 Apr;15(4):587-588. doi: 10.25122/jml-2021-0397. PMID: 35646168Free PMC Article
Shojaee A, Ronnasian F, Behnam M, Salehi M
J Med Case Rep 2021 Apr 26;15(1):217. doi: 10.1186/s13256-021-02699-4. PMID: 33902682Free PMC Article
Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE
PLoS Genet 2013;9(12):e1004036. Epub 2013 Dec 19 doi: 10.1371/journal.pgen.1004036. PMID: 24367282Free PMC Article
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
Kozin SH
J Bone Joint Surg Am 2003 Aug;85(8):1564-76. doi: 10.2106/00004623-200308000-00021. PMID: 12925640

Therapy

Justman S
J R Coll Physicians Edinb 2024 Jun;54(2):161-164. Epub 2024 May 28 doi: 10.1177/14782715241258503. PMID: 38807349
Kim JH, Scialli AR
Toxicol Sci 2011 Jul;122(1):1-6. Epub 2011 Apr 19 doi: 10.1093/toxsci/kfr088. PMID: 21507989
Fiume L, Busi C, Mattioli A
FEBS Lett 1983 Mar 7;153(1):6-10. doi: 10.1016/0014-5793(83)80108-2. PMID: 6186534
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article
Super M, Muller A
S Afr Med J 1972 Apr 15;46(16):488. PMID: 5033176

Prognosis

Riazat MI, Kewlani B, Abujennah J, Sharif F
BMJ Case Rep 2019 Nov 24;12(11) doi: 10.1136/bcr-2019-229970. PMID: 31767602Free PMC Article
Pinette MG, Hand M, Hunt RC, Blackstone J, Wax JR, Cartin A
J Ultrasound Med 2005 Nov;24(11):1555-9. doi: 10.7863/jum.2005.24.11.1555. PMID: 16239660
Bhardwaj AP
Indian Pediatr 2004 Feb;41(2):196. PMID: 15004311
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
WEBB JF
Can Med Assoc J 1963 Nov 9;89(19):987-92. PMID: 14076167Free PMC Article

Clinical prediction guides

Morgis RA, Haan K, Schrey JM, Zimmerman RM, Hersperger AR
Virology 2021 Dec;564:1-12. Epub 2021 Sep 16 doi: 10.1016/j.virol.2021.09.003. PMID: 34560573
Özdemir M, Turan A, Kavak RP
Skeletal Radiol 2019 Jul;48(7):1137-1143. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3167-x. PMID: 30712123
Lhuaire M, Jestin A, Boulagnon C, Loock M, Doco-Fenzy M, Gaillard D, Diebold MD, Avisse C, Labrousse M
Birth Defects Res A Clin Mol Teratol 2013 Mar;97(3):123-32. doi: 10.1002/bdra.23125. PMID: 23526679
Schüler L, Salzano FM
Am J Med Genet 1994 Jan 1;49(1):29-35. doi: 10.1002/ajmg.1320490108. PMID: 8172248
Rodríguez JI, Palacios J, Razquin S
Am J Med Genet 1991 Apr 1;39(1):25-7. doi: 10.1002/ajmg.1320390107. PMID: 1867259

Recent systematic reviews

Elmherig A, Ahmed AF, Hegazy A, Herzenberg JE, Ibrahim T
J Pediatr Orthop 2020 Sep;40(8):425-430. doi: 10.1097/BPO.0000000000001510. PMID: 31972725
Tonni G, Grisolia G
Arch Gynecol Obstet 2013 Jul;288(1):3-11. Epub 2013 Apr 27 doi: 10.1007/s00404-013-2847-3. PMID: 23625330

Supplemental Content

Table of contents

    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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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...