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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

Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
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
Facial keys to orthodontic diagnosis and treatment planning--Part II.
Arnett GW, Bergman RT
Am J Orthod Dentofacial Orthop 1993 May;103(5):395-411. doi: 10.1016/s0889-5406(05)81791-3. PMID: 8480709

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
Cosmetic maxillofacial surgery.
Fattahi T, Bolding SL, Griffin JE Jr, Owsley TG
J Oral Maxillofac Surg 2012 Nov;70(11 Suppl 3):e310-30. doi: 10.1016/j.joms.2012.07.039. PMID: 23128006
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
Art and Pediatric Orthopaedics: The Master of Alkmaar and an Act of Mercy.
Joseph B
J Pediatr Orthop 2021 Feb 1;41(2):e103-e104. doi: 10.1097/BPO.0000000000001685. PMID: 33017336
Congenital contractural arachnodactyly.
Kulkarni ML, Kumar CS, Venkataramana V, George VG, Bhagyavathi M
Indian Pediatr 1995 Jan;32(1):82-7. PMID: 8617541
Noonan syndrome.
Allanson JE
J Med Genet 1987 Jan;24(1):9-13. doi: 10.1136/jmg.24.1.9. PMID: 3543368Free PMC Article
Rubinstein-Taybi syndrome.
Berry AC
J Med Genet 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. PMID: 3312608Free PMC Article

Therapy

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
Facial Cosmetic Surgery.
Perenack J, Haggerty C, Webb D, Will M
J Oral Maxillofac Surg 2017 Aug;75(8S):e302-e323. doi: 10.1016/j.joms.2017.04.029. PMID: 28728734
Ulerythema ophryogenes: updates and insights.
Morton CM, Bhate C, Janniger CK, Schwartz RA
Cutis 2014 Feb;93(2):83-7. PMID: 24605344
Fetal valproate syndrome.
Clayton-Smith J, Donnai D
J Med Genet 1995 Sep;32(9):724-7. doi: 10.1136/jmg.32.9.724. PMID: 8544193Free PMC Article

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
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
Costello syndrome: an overview.
Hennekam RC
Am J Med Genet C Semin Med Genet 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. PMID: 12561057
Congenital contractural arachnodactyly.
Kulkarni ML, Kumar CS, Venkataramana V, George VG, Bhagyavathi M
Indian Pediatr 1995 Jan;32(1):82-7. PMID: 8617541
The prognosis of encephaloceles.
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997

Clinical prediction guides

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.
Golden CS, Williams S, Serrano MA
Birth Defects Res 2023 Nov 15;115(19):1809-1824. Epub 2023 May 9 doi: 10.1002/bdr2.2183. PMID: 37158694Free 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 fetal valproate syndrome.
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

Recent systematic reviews

Childhood Experiences and Perspectives of Individuals With Orofacial Clefts: A Qualitative Systematic Review.
Jensen ED, Poirier BF, Oliver KJ, Roberts R, Anderson PJ, Jamieson LM
Cleft Palate Craniofac J 2023 Jul;60(7):888-899. Epub 2022 Mar 7 doi: 10.1177/10556656221084542. PMID: 35254151
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
Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis.
De Maria L, De Sanctis P, Balakrishnan K, Tollefson M, Brinjikji W
J Vasc Surg Venous Lymphat Disord 2020 Jan;8(1):154-164. Epub 2019 Nov 14 doi: 10.1016/j.jvsv.2019.09.007. PMID: 31734224
A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.
Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

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