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Upturned corners of mouth

MedGen UID:
766385
•Concept ID:
C3553471
•
Finding
Synonyms: Upturned mouth; Upturned oral commisures
 
HPO: HP:0010805

Definition

Oral commissures positioned superior to the midline labial fissure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Upturned corners of mouth

Conditions with this feature

Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes
MedGen UID:
766379
•Concept ID:
C3553465
•
Disease or Syndrome
See: Condition Record
Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes

Recent clinical studies

Etiology

Further delineation of the chromosome 14q terminal deletion syndrome.
van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC
Am J Med Genet 2002 Jun 1;110(1):65-72. doi: 10.1002/ajmg.10207. PMID: 12116274

Diagnosis

HDlive imaging of the face of fetuses with autosomal trisomies.
Hanaoka U, Tanaka H, Koyano K, Uematsu R, Kanenishi K, Hata T
J Med Ultrason (2001) 2014 Jul;41(3):339-42. Epub 2014 Feb 25 doi: 10.1007/s10396-014-0523-2. PMID: 27277908
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Shimada S, Miya K, Oda N, Watanabe Y, Kumada T, Sugawara M, Shimojima K, Yamamoto T
Am J Med Genet A 2012 Jul;158A(7):1771-7. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35431. PMID: 22678813
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Noh GJ, Graham JM Jr
Eur J Med Genet 2012 May;55(5):354-7. Epub 2012 May 29 doi: 10.1016/j.ejmg.2012.05.003. PMID: 22659271
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
Spiegel R, Horovitz Y, Peters H, Erdogan F, Chervinsky I, Shalev SA
Am J Med Genet A 2009 Dec;149A(12):2655-60. doi: 10.1002/ajmg.a.33127. PMID: 19938075
Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Kennerknecht I, Barbi G, Rodens K
Am J Med Genet 1993 Dec 1;47(8):1157-60. doi: 10.1002/ajmg.1320470805. PMID: 7507296

Therapy

Mouth Corner Lift with Botulinum Toxin Type A and Hyaluronic Acid Filler.
Jeong TK
Plast Reconstr Surg 2020 Mar;145(3):538e-541e. doi: 10.1097/PRS.0000000000006605. PMID: 32097307

Prognosis

Mouth Corner Lift with Botulinum Toxin Type A and Hyaluronic Acid Filler.
Jeong TK
Plast Reconstr Surg 2020 Mar;145(3):538e-541e. doi: 10.1097/PRS.0000000000006605. PMID: 32097307
Further delineation of the chromosome 14q terminal deletion syndrome.
van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC
Am J Med Genet 2002 Jun 1;110(1):65-72. doi: 10.1002/ajmg.10207. PMID: 12116274

Clinical prediction guides

Mouth Corner Lift with Botulinum Toxin Type A and Hyaluronic Acid Filler.
Jeong TK
Plast Reconstr Surg 2020 Mar;145(3):538e-541e. doi: 10.1097/PRS.0000000000006605. PMID: 32097307
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Noh GJ, Graham JM Jr
Eur J Med Genet 2012 May;55(5):354-7. Epub 2012 May 29 doi: 10.1016/j.ejmg.2012.05.003. PMID: 22659271
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Noh GJ, Graham JM Jr
Eur J Med Genet 2012 Jan;55(1):59-62. Epub 2011 Oct 24 doi: 10.1016/j.ejmg.2011.10.001. PMID: 22085995

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    • ClinVar
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    • PubMed
      Related literature resources in PubMed

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