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

Khallafallah O, Grose C
Viruses 2022 Dec 15;14(12) doi: 10.3390/v14122800. PMID: 36560805Free 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
Zakari M, Yuen K, Gerton JL
Wiley Interdiscip Rev Dev Biol 2015 Sep-Oct;4(5):489-504. Epub 2015 Apr 7 doi: 10.1002/wdev.190. PMID: 25847322Free PMC Article
Fenner F
FEMS Microbiol Rev 2000 Apr;24(2):123-33. doi: 10.1016/S0168-6445(00)00027-9. PMID: 10717311
Wilson JG, Brent RL
Am J Obstet Gynecol 1981 Nov 1;141(5):567-80. doi: 10.1016/s0002-9378(15)33279-8. PMID: 6271011

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
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
Akhtar R, Humayun Y
J Coll Physicians Surg Pak 2010 May;20(5):343-4. PMID: 20642932
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

Therapy

Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Kim JH, Scialli AR
Toxicol Sci 2011 Jul;122(1):1-6. Epub 2011 Apr 19 doi: 10.1093/toxsci/kfr088. PMID: 21507989
Chapman JL, Nichols DK, Martinez MJ, Raymond JW
Vet Pathol 2010 Sep;47(5):852-70. Epub 2010 Aug 3 doi: 10.1177/0300985810378649. PMID: 20682806
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

Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Klaassen Z, Choi M, Musselman R, Eapen D, Tubbs RS, Loukas M
Surg Radiol Anat 2012 Mar;34(2):101-6. Epub 2011 Nov 9 doi: 10.1007/s00276-011-0871-1. PMID: 22068244
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
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Huston J, Curtis S, Egelund EF
Ann Pharmacother 2023 Oct;57(10):1198-1206. Epub 2023 Jan 23 doi: 10.1177/10600280231151751. PMID: 36688308
Khallafallah O, Grose C
Viruses 2022 Dec 15;14(12) doi: 10.3390/v14122800. PMID: 36560805Free PMC Article
Kattel P
JNMA J Nepal Med Assoc 2018 Nov-Dec;56(214):974-976. doi: 10.31729/jnma.3884. PMID: 31065147Free PMC Article
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Ramshaw IA, Ramsay AJ, Karupiah G, Rolph MS, Mahalingam S, Ruby JC
Immunol Rev 1997 Oct;159:119-35. doi: 10.1111/j.1600-065x.1997.tb01011.x. PMID: 9416507

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...