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Midline notching of lower lip

MedGen UID:
1052371
•Concept ID:
CN377401
•
Finding
HPO: HP:6000569

Definition

Exaggerated indentation at the very middle (midline) of the lower lip. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMidline notching of lower lip

Conditions with this feature

Orofaciodigital syndrome 19
MedGen UID:
1824021
•Concept ID:
C5774248
•
Disease or Syndrome
Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022).
See: Condition Record
Orofaciodigital syndrome 19

Recent clinical studies

Diagnosis

A More Favorable Lower-Lip Incision for the Removal of Deep Intraoral Malignancies.
Xiang XW, Feng da J, Chen X, Chen CJ
J Craniofac Surg 2016 May;27(3):e228-9. doi: 10.1097/SCS.0000000000002360. PMID: 27159868
Median cleft of the lower lip: report of two new cases and review of the literature.
Seyhan T, Kýlýnr H
Ann Otol Rhinol Laryngol 2002 Mar;111(3 Pt 1):217-21. doi: 10.1177/000348940211100305. PMID: 11913681

Prognosis

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN, Al-Qattan HM
BMC Med Genet 2019 Jan 11;20(1):12. doi: 10.1186/s12881-019-0747-5. PMID: 30635043Free PMC Article

Clinical prediction guides

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN, Al-Qattan HM
BMC Med Genet 2019 Jan 11;20(1):12. doi: 10.1186/s12881-019-0747-5. PMID: 30635043Free PMC Article
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.
Yıldırım Y, Kerem M, Köroğlu Ç, Tolun A
Eur J Hum Genet 2014 Mar;22(3):333-7. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.138. PMID: 23860042Free PMC Article

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