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Abnormal midface morphology

MedGen UID:
867437
•Concept ID:
C4021811
•
Anatomical Abnormality
Synonym: Abnormality of the midface
 
HPO: HP:0000309

Definition

An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. [from HPO]

Professional guidelines

PubMed

Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment.
Fariña R, Lolas J, Moreno E, Alister JP, Uribe MF, Pantoja R, Valladares S, Arrué C
J Craniofac Surg 2022 Mar-Apr 01;33(2):496-501. doi: 10.1097/SCS.0000000000007973. PMID: 34261964
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.
Lund IC, Vestergaard EM, Christensen R, Uldbjerg N, Becher N
Eur J Med Genet 2016 Jan;59(1):48-51. Epub 2015 Dec 9 doi: 10.1016/j.ejmg.2015.12.001. PMID: 26679067
Orthopaedic protraction of the midface in the deciduous dentition. Results covering 3 years out of treatment.
Tindlund RS
J Craniomaxillofac Surg 1989 Dec;17 Suppl 1:17-9. doi: 10.1016/s1010-5182(89)80032-0. PMID: 2691528

Recent clinical studies

Etiology

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG
Am J Med Genet A 2016 Dec;170(12):3215-3221. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37862. PMID: 27481450Free PMC Article
Nasal bone in prenatal trisomy 21 screening.
Shanks A, Odibo A
Obstet Gynecol Surv 2010 Jan;65(1):46-52. doi: 10.1097/OGX.0b013e3181c9bafc. PMID: 20040129
Achondroplasia: manifestations and treatment.
Shirley ED, Ain MC
J Am Acad Orthop Surg 2009 Apr;17(4):231-41. doi: 10.5435/00124635-200904000-00004. PMID: 19307672
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Genetic and clinical features of p450 oxidoreductase deficiency.
Scott RR, Miller WL
Horm Res 2008;69(5):266-75. Epub 2008 Feb 6 doi: 10.1159/000114857. PMID: 18259105

Diagnosis

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666. PMID: 30580482Free PMC Article
Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.
Wirtz N, Sidman J, Block W
Am J Perinatol 2016 May;33(6):531-4. Epub 2016 Feb 23 doi: 10.1055/s-0036-1572537. PMID: 26906186
Binder's syndrome.
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free PMC Article
Achondroplasia: manifestations and treatment.
Shirley ED, Ain MC
J Am Acad Orthop Surg 2009 Apr;17(4):231-41. doi: 10.5435/00124635-200904000-00004. PMID: 19307672
Schinzel-Giedion syndrome.
Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G
Eur J Pediatr 1993 May;152(5):421-3. doi: 10.1007/BF01955902. PMID: 8319710

Therapy

Extensive maxillary osteomyelitis following tooth extraction in a patient with osteopetrosis.
Nilesh K
BMJ Case Rep 2020 Jun 7;13(6) doi: 10.1136/bcr-2020-235091. PMID: 32513766Free PMC Article
Transmucosal Pterygomaxillary Separation in the Le Fort I Osteotomy.
Susarla SM, Ettinger RE, Egbert MA
Plast Reconstr Surg 2020 May;145(5):1262-1265. doi: 10.1097/PRS.0000000000006751. PMID: 32332550
Axenfeld-Rieger syndrome (ARS): A review and case report.
Waldron JM, McNamara C, Hewson AR, McNamara CM
Spec Care Dentist 2010 Sep-Oct;30(5):218-22. Epub 2010 Aug 17 doi: 10.1111/j.1754-4505.2010.00153.x. PMID: 20831741
Minimizing pin complications when using the rigid external distraction (RED) system for midface distraction.
Aizenbud D, Rachmiel A, Emodi O
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Feb;105(2):149-54. doi: 10.1016/j.tripleo.2007.06.018. PMID: 18230386
Perspectives on growth factors and orofacial development.
Greene RM, Pisano MM
Curr Pharm Des 2004;10(22):2701-17. doi: 10.2174/1381612043383647. PMID: 15320737

Prognosis

Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.
Hosseini-Farahabadi S, Gignac SJ, Danescu A, Fu K, Richman JM
J Dent Res 2017 Oct;96(11):1265-1272. Epub 2017 Jun 29 doi: 10.1177/0022034517716916. PMID: 28662348
Holoprosencephaly: An update on cytogenetic abnormalities.
Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):86-92. doi: 10.1002/ajmg.c.30250. PMID: 20104602
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Genetic and clinical features of p450 oxidoreductase deficiency.
Scott RR, Miller WL
Horm Res 2008;69(5):266-75. Epub 2008 Feb 6 doi: 10.1159/000114857. PMID: 18259105
Soft tissue response to orthognathic surgery in persons with unilateral cleft lip and palate.
Ewing M, Ross RB
Cleft Palate Craniofac J 1993 May;30(3):320-7. doi: 10.1597/1545-1569_1993_030_0320_strtos_2.3.co_2. PMID: 8338863

Clinical prediction guides

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Halperin D, Agam N, Hallak M, Feinstein M, Drabkin M, Yogev Y, Wormser O, Shavit E, Gradstein L, Shelef I, Mijalovsky A, Flusser H, Birk OS
Clin Genet 2022 Aug;102(2):123-129. Epub 2022 May 5 doi: 10.1111/cge.14143. PMID: 35443069Free PMC Article
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.
Hosseini-Farahabadi S, Gignac SJ, Danescu A, Fu K, Richman JM
J Dent Res 2017 Oct;96(11):1265-1272. Epub 2017 Jun 29 doi: 10.1177/0022034517716916. PMID: 28662348
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article
Apert syndrome.
Premalatha, Kannan VP; Madhu
J Indian Soc Pedod Prev Dent 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169. PMID: 21273726
Holoprosencephaly: An update on cytogenetic abnormalities.
Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C, David V
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):86-92. doi: 10.1002/ajmg.c.30250. PMID: 20104602

Recent systematic reviews

"Primary Correction of the Cleft Nasal Septum: A Systematic Review".
Bins GP, Dourado J, Tang J, Kogan S, Runyan CM
Cleft Palate Craniofac J 2024 Mar;61(3):373-382. Epub 2022 Sep 18 doi: 10.1177/10556656221127539. PMID: 36120835
Sagittal Growth Restriction of the Midface Following Isolated Cleft Lip Repair: A Systematic Review and Meta-Analysis.
Celie KB, Wlodarczyk J, Naidu P, Tapia MF, Nagengast E, Yao C, Magee W 3rd
Cleft Palate Craniofac J 2024 Jan;61(1):20-32. Epub 2022 Jul 25 doi: 10.1177/10556656221116005. PMID: 35876322
Influence of the orthognathic surgical procedure Le Fort I osteotomy on the vascularity and neurosensory response of the dental pulp: A systematic review.
Ranna V, Kellesarian SV, Feng C, Javed F, Ghanem A
Quintessence Int 2016;47(8):677-86. doi: 10.3290/j.qi.a36386. PMID: 27341469
Tracheal cartilaginous sleeve association with syndromic midface hypoplasia.
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
Le Fort III distraction osteogenesis versus conventional Le Fort III osteotomy in correction of syndromic midfacial hypoplasia: a systematic review.
Saltaji H, Altalibi M, Major MP, Al-Nuaimi MH, Tabbaa S, Major PW, Flores-Mir C
J Oral Maxillofac Surg 2014 May;72(5):959-72. Epub 2013 Oct 9 doi: 10.1016/j.joms.2013.09.039. PMID: 24280172

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