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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

Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
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
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G
Am J Med Genet A 2009 Jan;149A(1):6-28. doi: 10.1002/ajmg.a.32612. PMID: 19125436Free PMC Article

Diagnosis

Bhatti SL, Daly LT, Mejia M, Perlyn C
Pediatr Rev 2021 Apr;42(4):180-188. doi: 10.1542/pir.2019-0167. PMID: 33795464
Alsuwailem A, Myer CM 4th, Chaudry G
Semin Pediatr Surg 2020 Oct;29(5):150968. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150968. PMID: 33069291
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
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
Rosenberg TL, Suen JY, Richter GT
Otolaryngol Clin North Am 2018 Feb;51(1):185-195. doi: 10.1016/j.otc.2017.09.005. PMID: 29217062

Therapy

Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
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
Gross A, Langevin P, Burnie SJ, Bédard-Brochu MS, Empey B, Dugas E, Faber-Dobrescu M, Andres C, Graham N, Goldsmith CH, Brønfort G, Hoving JL, LeBlanc F
Cochrane Database Syst Rev 2015 Sep 23;2015(9):CD004249. doi: 10.1002/14651858.CD004249.pub4. PMID: 26397370Free PMC Article

Prognosis

Dorrity J, Mack J, Wong K, Richter GT
J Oral Pathol Med 2022 Nov;51(10):860-871. Epub 2022 Jul 25 doi: 10.1111/jop.13322. PMID: 35674677
Abdel Razek AAK, Elmokadem AH, Soliman M, Mukherji SK
Magn Reson Imaging Clin N Am 2022 Feb;30(1):199-213. doi: 10.1016/j.mric.2021.07.005. PMID: 34802579
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
Petrone P, Velaz-Pardo L, Gendy A, Velcu L, Brathwaite CEM, Joseph DK
Cir Esp (Engl Ed) 2019 Nov;97(9):489-500. Epub 2019 Jul 27 doi: 10.1016/j.ciresp.2019.06.001. PMID: 31358299
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

Clinical prediction guides

Gallant SC, Chewning RH, Orbach DB, Trenor CC 3rd, Cunningham MJ
JAMA Otolaryngol Head Neck Surg 2021 Feb 1;147(2):197-206. doi: 10.1001/jamaoto.2020.4353. PMID: 33237296
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
Yadav P, De Castro DK, Waner M, Meyer L, Fay A
Semin Ophthalmol 2013 Sep-Nov;28(5-6):257-66. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825279. PMID: 24010650
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

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
Carqueja IM, Sousa J, Mansilha A
Int Angiol 2018 Apr;37(2):127-142. Epub 2018 Feb 8 doi: 10.23736/S0392-9590.18.03961-5. PMID: 29424187
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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