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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal midface morphology

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Abnormality of the face
      - Abnormal midface morphology
        Abnormal cheek morphology
        Abnormal buccal fat pad morphology
        Abnormal buccal mucosa morphology
        Abnormal distribution of cell junction proteins in buccal mucosal cells
        Abnormal periauricular region morphology
        Postauricular skin tag
        Preauricular cyst
        Preauricular skin furrow
        Pretragal ectopia
        Abnormality of buccinator muscle
        Full cheeks
        Premature sagging cheeks
        Sunken cheeks
        Hyperplasia of midface
        Midface retrusion

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

Cleft Lip Repair, Nasoalveolar Molding, and Primary Cleft Rhinoplasty.

Bhuskute AA, Tollefson TT
Facial Plast Surg Clin North Am 2016 Nov;24(4):453-466. doi: 10.1016/j.fsc.2016.06.015. PMID: 27712813

Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

Miller SF, Weinberg SM, Nidey NL, Defay DK, Marazita ML, Wehby GL, Moreno Uribe LM
J Anat 2014 Jun;224(6):688-709. Epub 2014 Apr 16 doi: 10.1111/joa.12182. PMID: 24738728 Free PMC Article

See all (14)

Recent clinical studies

Etiology

Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.

Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM
Clin Oral Investig 2022 Mar;26(3):2927-2936. Epub 2021 Dec 14 doi: 10.1007/s00784-021-04275-y. PMID: 34904178 Free PMC Article

Airway Analysis in Apert Syndrome.

Forte AJ, Lu X, Hashim PW, Steinbacher DM, Alperovich M, Persing JA, Alonso N
Plast Reconstr Surg 2019 Sep;144(3):704-709. doi: 10.1097/PRS.0000000000005937. PMID: 31461034

The Arrhinias.

Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

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

Craniosynostosis.

Marchac D, Renier D
World J Surg 1989 Jul-Aug;13(4):358-65. doi: 10.1007/BF01660748. PMID: 2773495

See all (258)

Diagnosis

An orthodontic perspective on Larsen syndrome.

Yasunaga M, Ishikawa H, Yanagita K, Tamaoki S
BMC Oral Health 2021 Mar 10;21(1):111. doi: 10.1186/s12903-021-01454-x. PMID: 33691679 Free PMC Article

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: 30580482 Free PMC Article

Binder's syndrome.

Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013 Free PMC Article

The Arrhinias.

Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Craniosynostosis.

Marchac D, Renier D
World J Surg 1989 Jul-Aug;13(4):358-65. doi: 10.1007/BF01660748. PMID: 2773495

See all (206)

Therapy

Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers.

Al-Namnam NMN, Hariri F, Rahman ZAA
Br J Oral Maxillofac Surg 2018 Jun;56(5):353-366. Epub 2018 Apr 13 doi: 10.1016/j.bjoms.2018.03.002. PMID: 29661509

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

3D soft tissue changes in facial morphology in patients with cleft lip and palate and class III mal occlusion under therapy with rapid maxillary expansion and delaire facemask.

Sade Hoefert C, Bacher M, Herberts T, Krimmel M, Reinert S, Göz G
J Orofac Orthop 2010 Mar;71(2):136-51. Epub 2010 Apr 1 doi: 10.1007/s00056-010-9931-0. PMID: 20354840

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

Verification of the fetal valproate syndrome phenotype.

Ardinger HH, Atkin JF, Blackston RD, Elsas LJ, Clarren SK, Livingstone S, Flannery DB, Pellock JM, Harrod MJ, Lammer EJ
Am J Med Genet 1988 Jan;29(1):171-85. doi: 10.1002/ajmg.1320290123. PMID: 3125743

See all (52)

Prognosis

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ
Am J Hum Genet 2019 May 2;104(5):914-924. Epub 2019 Apr 11 doi: 10.1016/j.ajhg.2019.02.026. PMID: 30982611 Free PMC Article

Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers.

Al-Namnam NMN, Hariri F, Rahman ZAA
Br J Oral Maxillofac Surg 2018 Jun;56(5):353-366. Epub 2018 Apr 13 doi: 10.1016/j.bjoms.2018.03.002. PMID: 29661509

Management of the Airway in Apert Syndrome.

Xie C, De S, Selby A
J Craniofac Surg 2016 Jan;27(1):137-41. doi: 10.1097/SCS.0000000000002333. PMID: 26674912

The Arrhinias.

Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

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

See all (138)

Clinical prediction guides

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).

Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR
Am J Med Genet A 2020 Jan;182(1):38-52. Epub 2019 Nov 29 doi: 10.1002/ajmg.a.61380. PMID: 31782611 Free PMC Article

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.

Adel M, Yamaguchi T, Tomita D, Nakawaki T, Kim YI, Hikita Y, Haga S, Takahashi M, Nadim MA, Kawaguchi A, Isa M, El-Kenany WH, El-Kadi AA, Park SB, Ishida H, Maki K, Kimura R
PLoS One 2017;12(1):e0170645. Epub 2017 Jan 27 doi: 10.1371/journal.pone.0170645. PMID: 28129408 Free PMC Article

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

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

See all (138)

Recent systematic reviews

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

See all (4)

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Abnormal midface morphology

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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