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Abnormality of head or neck

MedGen UID:
867442
Concept ID:
C4021817
Anatomical Abnormality
Synonym: Head and neck abnormality
 
HPO: HP:0000152

Definition

An abnormality of head and neck. [from HPO]

Conditions with this feature

Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Durante C, Hegedüs L, Czarniecka A, Paschke R, Russ G, Schmitt F, Soares P, Solymosi T, Papini E
Eur Thyroid J 2023 Oct 1;12(5) Epub 2023 Aug 14 doi: 10.1530/ETJ-23-0067. PMID: 37358008Free PMC Article
Corp N, Mansell G, Stynes S, Wynne-Jones G, Morsø L, Hill JC, van der Windt DA
Eur J Pain 2021 Feb;25(2):275-295. Epub 2020 Nov 12 doi: 10.1002/ejp.1679. PMID: 33064878Free PMC Article
Flynn JT, Kaelber DC, Baker-Smith CM, Blowey D, Carroll AE, Daniels SR, de Ferranti SD, Dionne JM, Falkner B, Flinn SK, Gidding SS, Goodwin C, Leu MG, Powers ME, Rea C, Samuels J, Simasek M, Thaker VV, Urbina EM; SUBCOMMITTEE ON SCREENING AND MANAGEMENT OF HIGH BLOOD PRESSURE IN CHILDREN
Pediatrics 2017 Sep;140(3) Epub 2017 Aug 21 doi: 10.1542/peds.2017-1904. PMID: 28827377

Recent clinical studies

Etiology

Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Kulbersh BD, Wiatrak BJ
Otolaryngol Clin North Am 2015 Feb;48(1):175-90. doi: 10.1016/j.otc.2014.09.012. PMID: 25439554
Matsunaga T
Adv Otorhinolaryngol 2014;75:2-8. Epub 2013 Oct 11 doi: 10.1159/000350491. PMID: 24135340
Clarren SK, Smith DW
N Engl J Med 1978 May 11;298(19):1063-7. doi: 10.1056/NEJM197805112981906. PMID: 347295

Diagnosis

Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Alfi D, Lam D, Gateno J
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):167-73. Epub 2014 Jul 15 doi: 10.1016/j.cxom.2014.04.003. PMID: 25171997
Kaga K
Adv Otorhinolaryngol 2014;75:20-3. Epub 2013 Oct 11 doi: 10.1159/000350596. PMID: 24135344
Geddes G, Butterly MM, Patel SM, Marra S
Pediatr Rev 2013 Mar;34(3):115-24; quiz 125. doi: 10.1542/pir.34-3-115. PMID: 23457198
Varshney M, Aziz M, Maheshwari V, Alam K, Jain A, Arif SH, Gaur K
BMJ Case Rep 2011 Sep 26;2011 doi: 10.1136/bcr.04.2011.4165. PMID: 22679266Free PMC Article

Therapy

Kuligowski T, Skrzek A, Cieślik B
Int J Environ Res Public Health 2021 Jun 7;18(11) doi: 10.3390/ijerph18116176. PMID: 34200510Free PMC Article
Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Hoe VC, Urquhart DM, Kelsall HL, Zamri EN, Sim MR
Cochrane Database Syst Rev 2018 Oct 23;10(10):CD008570. doi: 10.1002/14651858.CD008570.pub3. PMID: 30350850Free PMC Article
Watanabe T, Onomura M, Asato H
Adv Otorhinolaryngol 2014;75:124-8. Epub 2013 Oct 11 doi: 10.1159/000350981. PMID: 24135366
Simonetti G, Bozzao A, Floris R, Silvestrini M
Eur Radiol 1998;8(5):691-7. doi: 10.1007/s003300050461. PMID: 9601954

Prognosis

Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Kieliszak CR, Pollinger TH, Tollefson MM, Griffin JR
J Am Acad Dermatol 2015 Jun;72(6):1066-73. Epub 2015 Apr 1 doi: 10.1016/j.jaad.2015.02.1100. PMID: 25840731
Kulbersh BD, Wiatrak BJ
Otolaryngol Clin North Am 2015 Feb;48(1):175-90. doi: 10.1016/j.otc.2014.09.012. PMID: 25439554

Clinical prediction guides

Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK
Neuro Endocrinol Lett 2021 Jan;41(6):285-289. PMID: 33714239
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Brouwer CL, Steenbakkers RJ, Bourhis J, Budach W, Grau C, Grégoire V, van Herk M, Lee A, Maingon P, Nutting C, O'Sullivan B, Porceddu SV, Rosenthal DI, Sijtsema NM, Langendijk JA
Radiother Oncol 2015 Oct;117(1):83-90. Epub 2015 Aug 13 doi: 10.1016/j.radonc.2015.07.041. PMID: 26277855
Alexander RC, Mukherjee S, Richter J, Kaufmann CA
J Nerv Ment Dis 1994 Nov;182(11):639-44. doi: 10.1097/00005053-199411000-00007. PMID: 7964672
Haaf T, Hofmann R, Schmid M
Am J Med Genet 1991 Sep 15;40(4):444-6. doi: 10.1002/ajmg.1320400413. PMID: 1746609

Recent systematic reviews

Poondru S, Alvi S, LeWitt TM, Haddadin R, Kundu RV
Int J Dermatol 2023 Dec;62(12):1433-1436. Epub 2023 Nov 2 doi: 10.1111/ijd.16883. PMID: 37919864
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Kuligowski T, Skrzek A, Cieślik B
Int J Environ Res Public Health 2021 Jun 7;18(11) doi: 10.3390/ijerph18116176. PMID: 34200510Free PMC Article
Gross A, Kay TM, Paquin JP, Blanchette S, Lalonde P, Christie T, Dupont G, Graham N, Burnie SJ, Gelley G, Goldsmith CH, Forget M, Hoving JL, Brønfort G, Santaguida PL; Cervical Overview Group
Cochrane Database Syst Rev 2015 Jan 28;1(1):CD004250. doi: 10.1002/14651858.CD004250.pub5. PMID: 25629215Free PMC Article
Binder AI
BMJ Clin Evid 2008 Aug 4;2008 PMID: 19445809Free PMC Article

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