U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Laterally extended eyebrow

MedGen UID:
869034
Concept ID:
C4023451
Finding
Synonym: Laterally extended eyebrows
 
HPO: HP:0011230

Definition

An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLaterally extended eyebrow

Conditions with this feature

Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
MedGen UID:
318752
Concept ID:
C1832950
Disease or Syndrome
Cornelia de Lange syndrome 3
MedGen UID:
339902
Concept ID:
C1853099
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Cerebellar, ocular, craniofacial, and genital syndrome
MedGen UID:
1680057
Concept ID:
C5193118
Disease or Syndrome
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).
Sandestig-stefanova syndrome
MedGen UID:
1718072
Concept ID:
C5394118
Disease or Syndrome
Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019).

Recent clinical studies

Etiology

Shah HR, Bertelli JA
J Hand Surg Am 2023 Nov;48(11):1173.e1-1173.e7. Epub 2023 Apr 13 doi: 10.1016/j.jhsa.2023.03.009. PMID: 37923488
Li SL, Li KY, Song T, Wu D, Yin NB, Wang YQ
J Craniofac Surg 2023 Jul-Aug 01;34(5):1550-1555. Epub 2023 Jun 12 doi: 10.1097/SCS.0000000000009348. PMID: 37410575
Hollander MHJ, Contini M, Delli K, Vissink A, Schepers RH, Jansma J, Schortinghuis J
Plast Reconstr Surg 2023 Jan 1;151(1):73-82. Epub 2022 Oct 7 doi: 10.1097/PRS.0000000000009801. PMID: 36205656
Jamshidian Tehrani M, Mirghorbani M, Najafi L, Sharif Kashani S, Asadi Amoli F, Asadi Khameneh E
J Cosmet Dermatol 2021 Nov;20(11):3616-3622. Epub 2021 Feb 26 doi: 10.1111/jocd.14007. PMID: 33605025
Bellinvia G, Klinger F, Maione L, Bellinvia P
Aesthet Surg J 2013 Jan;33(1):24-30. doi: 10.1177/1090820X12468751. PMID: 23277617

Diagnosis

Kayserili H, Altunoglu U, Yesil G, Rosti RÖ
Am J Med Genet A 2016 Jun;170(6):1391-9. Epub 2016 Apr 13 doi: 10.1002/ajmg.a.37652. PMID: 27075597
Wells TS, Harris GJ
Ophthalmic Plast Reconstr Surg 2004 Nov;20(6):465-7. doi: 10.1097/01.iop.0000144789.04263.19. PMID: 15599250

Therapy

Dover JS, Humphrey SD, Lorenc ZP, Shamban A, Gross TM, Rubio RG, Vitarella D
Dermatol Surg 2023 Jan 1;49(1):60-65. Epub 2022 Nov 28 doi: 10.1097/DSS.0000000000003637. PMID: 36533798Free PMC Article
Jamshidian Tehrani M, Mirghorbani M, Najafi L, Sharif Kashani S, Asadi Amoli F, Asadi Khameneh E
J Cosmet Dermatol 2021 Nov;20(11):3616-3622. Epub 2021 Feb 26 doi: 10.1111/jocd.14007. PMID: 33605025
Zandi A, Ranjbar-Omidi B, Pourazizi M
J Cosmet Dermatol 2018 Oct;17(5):855-861. Epub 2017 Oct 3 doi: 10.1111/jocd.12433. PMID: 28975711
Varedi P, Bohluli B
J Oral Maxillofac Surg 2015 Sep;73(9):1843.e1-9. Epub 2015 May 29 doi: 10.1016/j.joms.2015.05.027. PMID: 26067559
Puig CM, LaFerriere KA
Arch Facial Plast Surg 2002 Oct-Dec;4(4):221-5. doi: 10.1001/archfaci.4.4.221. PMID: 12437426

Prognosis

Desai R, Srienc AI, Maamari RN, Custer PL, Warren DK, Chicoine MR
Oper Neurosurg (Hagerstown) 2021 Sep 15;21(4):E386-E391. doi: 10.1093/ons/opab259. PMID: 34333660
Varedi P, Bohluli B
J Oral Maxillofac Surg 2015 Sep;73(9):1843.e1-9. Epub 2015 May 29 doi: 10.1016/j.joms.2015.05.027. PMID: 26067559
Puig CM, LaFerriere KA
Arch Facial Plast Surg 2002 Oct-Dec;4(4):221-5. doi: 10.1001/archfaci.4.4.221. PMID: 12437426
Mourier KL, Cophignon J, D'Hermies F, Clay C, Lot G, George B
Minim Invasive Neurosurg 1994 Sep;37(1):9-11. doi: 10.1055/s-2008-1053441. PMID: 7804856

Clinical prediction guides

Shah HR, Bertelli JA
J Hand Surg Am 2023 Nov;48(11):1173.e1-1173.e7. Epub 2023 Apr 13 doi: 10.1016/j.jhsa.2023.03.009. PMID: 37923488
Hollander MHJ, Contini M, Delli K, Vissink A, Schepers RH, Jansma J, Schortinghuis J
Plast Reconstr Surg 2023 Jan 1;151(1):73-82. Epub 2022 Oct 7 doi: 10.1097/PRS.0000000000009801. PMID: 36205656
Jamshidian Tehrani M, Mirghorbani M, Najafi L, Sharif Kashani S, Asadi Amoli F, Asadi Khameneh E
J Cosmet Dermatol 2021 Nov;20(11):3616-3622. Epub 2021 Feb 26 doi: 10.1111/jocd.14007. PMID: 33605025
Zandi A, Ranjbar-Omidi B, Pourazizi M
J Cosmet Dermatol 2018 Oct;17(5):855-861. Epub 2017 Oct 3 doi: 10.1111/jocd.12433. PMID: 28975711
Puig CM, LaFerriere KA
Arch Facial Plast Surg 2002 Oct-Dec;4(4):221-5. doi: 10.1001/archfaci.4.4.221. PMID: 12437426

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...