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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

Advances in understanding etiology of achondroplasia and review of management.

Carter EM, Davis JG, Raggio CL
Curr Opin Pediatr 2007 Feb;19(1):32-7. doi: 10.1097/MOP.0b013e328013e3d9. PMID: 17224659

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

Midface Morphology and Growth in Syndromic Craniosynostosis Patients Following Frontofacial Monobloc Distraction.

Tonello C, Cevidanes LHS, Ruellas ACO, Alonso N
J Craniofac Surg 2021 Jan-Feb 01;32(1):87-91. doi: 10.1097/SCS.0000000000006997. PMID: 33136785 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

Carpenter syndrome.

Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041

Midface anomalies in children.

Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683

See all (254)

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: 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

Pfeiffer syndrome.

Vogels A, Fryns JP
Orphanet J Rare Dis 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. PMID: 16740155 Free PMC Article

Midface anomalies in children.

Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683

See all (202)

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: 32513766 Free PMC Article

Foramen magnum stenosis and midface hypoplasia in C-type natriuretic peptide-deficient rats and restoration by the administration of human C-type natriuretic peptide with 53 amino acids.

Yotsumoto T, Morozumi N, Furuya M, Fujii T, Hirota K, Ueda Y, Nakao K, Yamanaka S, Yoshikiyo K, Yoshida S, Nishimura T, Abe Y, Jindo T, Ogasawara H, Yasoda A
PLoS One 2019;14(5):e0216340. Epub 2019 May 23 doi: 10.1371/journal.pone.0216340. PMID: 31120905 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

Laser light scan analysis of the "anticonvulsant face".

Orup HI Jr, Deutsch CK, Holmes LB
Birth Defects Res A Clin Mol Teratol 2014 Dec;100(12):905-11. Epub 2014 May 27 doi: 10.1002/bdra.23250. PMID: 24863698 Free PMC Article

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

See all (52)

Prognosis

Midface Morphology and Growth in Syndromic Craniosynostosis Patients Following Frontofacial Monobloc Distraction.

Tonello C, Cevidanes LHS, Ruellas ACO, Alonso N
J Craniofac Surg 2021 Jan-Feb 01;32(1):87-91. doi: 10.1097/SCS.0000000000006997. PMID: 33136785 Free PMC Article

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

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

Carpenter syndrome.

Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041

See all (138)

Clinical prediction guides

Facial and Cranial Symmetry after One-Piece Fronto-Orbital Advancement with Distraction for Isolated Unilateral Coronal Synostosis.

Park H, Min J, Choi JW, Ra YS
Plast Reconstr Surg 2023 Jun 1;151(6):1275-1284. Epub 2023 Jan 3 doi: 10.1097/PRS.0000000000010164. PMID: 36728579

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

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

Importance of muscle movement for normal craniofacial development.

Hall JG
J Craniofac Surg 2010 Sep;21(5):1336-8. doi: 10.1097/SCS.0b013e3181ebcd4f. PMID: 20818259

Murine models of holoprosencephaly.

Schachter KA, Krauss RS
Curr Top Dev Biol 2008;84:139-70. doi: 10.1016/S0070-2153(08)00603-0. PMID: 19186244

See all (137)

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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