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Congenital anomaly of face

MedGen UID:
120588
•Concept ID:
C0266617
•
Congenital Abnormality
Synonym: facial dysmorphism
SNOMED CT: Congenital deformity of face (398206004); Congenital anomaly of face (398302004); Facial malformation (398302004); Facial dysmorphism (398302004); Face congenital deformities (32003007)

Professional guidelines

PubMed

Treatment of keratosis pilaris and its variants: a systematic review.
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
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article

Recent clinical studies

Etiology

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Diversity and dysmorphology.
Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Wang YR, Xu NX, Wang J, Wang XM
World J Pediatr 2019 Dec;15(6):528-535. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00309-4. PMID: 31587141
Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
Elements of morphology: standard terminology for the head and face.
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

Ear Abnormalities.
Bhatti SL, Daly LT, Mejia M, Perlyn C
Pediatr Rev 2021 Apr;42(4):180-188. doi: 10.1542/pir.2019-0167. PMID: 33795464
Diversity and dysmorphology.
Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Management of Type I and Type II laryngeal clefts: controversies and evidence.
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624
Proboscis lateralis.
Martin S, Hogan E, Sorenson EP, Cohen-Gadol AA, Tubbs RS, Loukas M
Childs Nerv Syst 2013 Jun;29(6):885-91. Epub 2013 Jan 25 doi: 10.1007/s00381-012-1989-0. PMID: 23354442

Therapy

Effect on Facial Growth of the Management of Cleft Lip and Palate.
Farber SJ, Maliha SG, Gonchar MN, Kantar RS, Shetye PR, Flores RL
Ann Plast Surg 2019 Dec;83(6):e72-e76. doi: 10.1097/SAP.0000000000001800. PMID: 30882417
State-of-the-Art Hypertelorism Management.
Shakir S, Hoppe IC, Taylor JA
Clin Plast Surg 2019 Apr;46(2):185-195. Epub 2019 Jan 9 doi: 10.1016/j.cps.2018.11.004. PMID: 30851750
Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Orotracheal intubation.
Dauphinee K
Emerg Med Clin North Am 1988 Nov;6(4):699-713. PMID: 3056706

Prognosis

Median Cleft Lip.
Menderes A, Ateşşahin FB, Babahan T, Terzi M, Atalmiş SE, Çağli HB
J Craniofac Surg 2023 Nov-Dec 01;34(8):e780-e781. Epub 2023 Aug 21 doi: 10.1097/SCS.0000000000009647. PMID: 37603894
Neu Laxova syndrome.
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Management of Type I and Type II laryngeal clefts: controversies and evidence.
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Clinical prediction guides

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D
Eur J Pediatr 2022 Jan;181(1):171-187. Epub 2021 Jul 7 doi: 10.1007/s00431-021-04108-w. PMID: 34232366Free PMC Article
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article
The telecanthus-hypospadias syndrome.
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

Conjoined thoracopagus twins: A systematic review of the anomalies and outcome of surgical separation.
Saxena R, Sinha A, Pathak M, Rathod KJ
Afr J Paediatr Surg 2023 Jul-Sep;20(3):157-165. doi: 10.4103/ajps.ajps_77_22. PMID: 37470549Free PMC Article
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Treatment of keratosis pilaris and its variants: a systematic review.
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
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Pediatric rhinoplasty: A discussion of perioperative considerations and systematic review.
Gupta A, Svider PF, Rayess H, Sheyn A, Folbe AJ, Eloy JA, Zuliani G, Carron MA
Int J Pediatr Otorhinolaryngol 2017 Jan;92:11-16. Epub 2016 Oct 26 doi: 10.1016/j.ijporl.2016.10.027. PMID: 28012510

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