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Lip pit

MedGen UID:
87412
Concept ID:
C0341059
Anatomical Abnormality
Synonym: Lip pits
 
HPO: HP:0100267

Definition

A depression located on a lip. [from HPO]

Conditions with this feature

Curry-Jones syndrome
MedGen UID:
167083
Concept ID:
C0795915
Disease or Syndrome
Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).
Van der Woude syndrome 2
MedGen UID:
338272
Concept ID:
C1847604
Disease or Syndrome
Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300).

Professional guidelines

PubMed

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC
Am J Med Genet A 2013 Oct;161A(10):2535-2544. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36133. PMID: 23949966Free PMC Article

Recent clinical studies

Etiology

James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Hasanzadeh N, Majidi MR, Kianifar H, Eslami N
J Craniofac Surg 2014 Jan;25(1):314-7. doi: 10.1097/SCS.0000000000000446. PMID: 24406596
Salahshourifar I, Wan Sulaiman WA, Halim AS, Zilfalil BA
Eur J Med Genet 2012 Jun;55(6-7):389-93. Epub 2012 Mar 3 doi: 10.1016/j.ejmg.2012.02.006. PMID: 22440537

Diagnosis

Neale H, Blundell AR, Schmidt B, Hawryluk EB
Pediatr Dermatol 2021 Sep;38(5):1363-1365. Epub 2021 Aug 3 doi: 10.1111/pde.14724. PMID: 34346094
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Pingul MM, Quintos JB
J Pediatr 2014 May;164(5):1235. Epub 2014 Jan 23 doi: 10.1016/j.jpeds.2013.12.039. PMID: 24461788

Prognosis

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Hasanzadeh N, Majidi MR, Kianifar H, Eslami N
J Craniofac Surg 2014 Jan;25(1):314-7. doi: 10.1097/SCS.0000000000000446. PMID: 24406596

Clinical prediction guides

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Hasanzadeh N, Majidi MR, Kianifar H, Eslami N
J Craniofac Surg 2014 Jan;25(1):314-7. doi: 10.1097/SCS.0000000000000446. PMID: 24406596
Koçer U, Aksoy HM, Tiftikcioğlu YO, Cöloğlu H, Karaaslan O
Genet Couns 2001;12(4):341-6. PMID: 11837602

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