Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Abnormality of the supraorbital ridges

MedGen UID:: 867638
•Concept ID:: C4022027
•: Anatomical Abnormality

Synonyms:	Abnormality of the brow of the face; Deformity of the supraorbital margins; Deformity of the supraorbital ridges; Malformation of the supraorbital margins; Malformation of the supraorbital ridges

HPO:	HP:0100538

Definition

An anomaly of the supraorbital portion of the frontal bones. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of the supraorbital ridges

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Abnormality of the face
      - Abnormality of the periorbital region
        Abnormality of the supraorbital ridges
        Prominent supraorbital ridges
        Heavy supraorbital ridges
        Prominent supraorbital arches in adult
        Underdeveloped supraorbital ridges

Recent clinical studies

Etiology

Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge.

Cho MJ, Hallac RR, Effendi M, Seaward JR, Kane AA
Sci Rep 2018 Apr 20;8(1):6312. doi: 10.1038/s41598-018-24756-7. PMID: 29679032 Free PMC Article

Craniometric Analysis of Frontal Cranial Morphology Following Posterior Vault Distraction.

Ter Maaten NS, Mazzaferro DM, Wes AM, Naran S, Bartlett SP, Taylor JA
J Craniofac Surg 2018 Jul;29(5):1169-1173. doi: 10.1097/SCS.0000000000004473. PMID: 29521768

Cephalometric assessment of soft tissue morphology of patients with acromegaly.

Bavbek NC, Tuncer BB, Tuncer C, Gungor K, Ozkan C, Arslan E, Altinova AE, Akturk M, Toruner FB
Aust Orthod J 2016 May;32(1):48-54. PMID: 27468591

The Development of the Calvarial Bones and Sutures and the Pathophysiology of Craniosynostosis.

Ishii M, Sun J, Ting MC, Maxson RE
Curr Top Dev Biol 2015;115:131-56. Epub 2015 Oct 1 doi: 10.1016/bs.ctdb.2015.07.004. PMID: 26589924

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA
Clin Genet 2013 Jun;83(6):539-44. Epub 2012 Sep 27 doi: 10.1111/cge.12005. PMID: 22946697 Free PMC Article

See all (20)

Diagnosis

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y
Hum Genet 2020 Apr;139(4):499-512. Epub 2020 Jan 24 doi: 10.1007/s00439-020-02115-9. PMID: 31980904

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):638-643. Epub 2019 Nov 12 doi: 10.1002/ajmg.c.31750. PMID: 31714006

Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge.

Cho MJ, Hallac RR, Effendi M, Seaward JR, Kane AA
Sci Rep 2018 Apr 20;8(1):6312. doi: 10.1038/s41598-018-24756-7. PMID: 29679032 Free PMC Article

Cephalometric assessment of soft tissue morphology of patients with acromegaly.

Bavbek NC, Tuncer BB, Tuncer C, Gungor K, Ozkan C, Arslan E, Altinova AE, Akturk M, Toruner FB
Aust Orthod J 2016 May;32(1):48-54. PMID: 27468591

The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.

Young TL, Ziylan S, Schaffer DB
J Pediatr Ophthalmol Strabismus 1993 Jan-Feb;30(1):48-52. doi: 10.3928/0191-3913-19930101-12. PMID: 8455127

See all (25)

Therapy

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

Lopez-Rangel E, Van Allen MI
Birth Defects Res A Clin Mol Teratol 2005 Nov;73(11):919-23. doi: 10.1002/bdra.20189. PMID: 16265639

Common surgical pitfalls in the skull.

Keskil S, Gözil R, Calgüner E
Surg Neurol 2003 Mar;59(3):228-31; discussion 231. doi: 10.1016/s0090-3019(02)01038-8. PMID: 12681561

Developmental delay in fetal aminopterin/methotrexate syndrome.

Del Campo M, Kosaki K, Bennett FC, Jones KL
Teratology 1999 Jul;60(1):10-2. doi: 10.1002/(SICI)1096-9926(199907)60:1<10::AID-TERA5>3.0.CO;2-H. PMID: 10413333

Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

Wilson GN, Holmes RG, Custer J, Lipkowitz JL, Stover J, Datta N, Hajra A
Am J Med Genet 1986 May;24(1):69-82. doi: 10.1002/ajmg.1320240109. PMID: 3706414

See all (4)

Prognosis

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

Shepherdson JL, Zheng H, Amarillo IE, McAlinden A, Shinawi M
Bone 2021 Jan;142:115705. Epub 2020 Oct 22 doi: 10.1016/j.bone.2020.115705. PMID: 33141070 Free PMC Article

Frontofacial advancement by distraction osteogenesis: a long-term review.

Gwanmesia I, Jeelani O, Hayward R, Dunaway D
Plast Reconstr Surg 2015 Feb;135(2):553-560. doi: 10.1097/PRS.0000000000001115. PMID: 25626799

Trigonocephaly: results after surgical correction of nonsyndromatic isolated metopic suture synostosis in 54 cases.

Engel M, Thiele OC, Mühling J, Hoffmann J, Freier K, Castrillon-Oberndorfer G, Seeberger R
J Craniomaxillofac Surg 2012 Jun;40(4):347-53. Epub 2011 Jul 2 doi: 10.1016/j.jcms.2011.05.010. PMID: 21724409

Surgical correction of metopic synostosis.

Aryan HE, Jandial R, Ozgur BM, Hughes SA, Meltzer HS, Park MS, Levy ML
Childs Nerv Syst 2005 May;21(5):392-8. Epub 2005 Feb 16 doi: 10.1007/s00381-004-1108-y. PMID: 15714353

Subtotal neonatal calvariectomy for severe craniosynostosis.

Hanson JW, Sayers MP, Knopp LM, Macdonald C, Smith DW
J Pediatr 1977 Aug;91(2):257-60. doi: 10.1016/s0022-3476(77)80823-8. PMID: 889596

See all (10)

Clinical prediction guides

One-Piece Frontoorbital Osteotomy With a Small Supraorbital Burr-Hole to Protect Against Intraoperative Dural Lacerations.

Hasegawa Y, Aihara Y, Chiba K, Sakurai H
J Craniofac Surg 2022 Sep 1;33(6):1883-1884. Epub 2022 Jun 29 doi: 10.1097/SCS.0000000000008499. PMID: 35765125

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

Shepherdson JL, Zheng H, Amarillo IE, McAlinden A, Shinawi M
Bone 2021 Jan;142:115705. Epub 2020 Oct 22 doi: 10.1016/j.bone.2020.115705. PMID: 33141070 Free PMC Article

Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.

Eker HK
Childs Nerv Syst 2021 May;37(5):1779-1784. Epub 2020 Aug 18 doi: 10.1007/s00381-020-04843-9. PMID: 32809063

The shell technique: bilateral fronto-orbital reshaping in trigonocephaly.

Di Rocco C, Frassanito P, Tamburrini G
Childs Nerv Syst 2013 Dec;29(12):2189-94. Epub 2012 Aug 23 doi: 10.1007/s00381-012-1766-0. PMID: 22914920

Subtotal neonatal calvariectomy for severe craniosynostosis.

Hanson JW, Sayers MP, Knopp LM, Macdonald C, Smith DW
J Pediatr 1977 Aug;91(2):257-60. doi: 10.1016/s0022-3476(77)80823-8. PMID: 889596

See all (14)