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Orofacial cleft 5(OFC5)

MedGen UID:
373280
Concept ID:
C1837210
Disease or Syndrome
Synonyms: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5; OFC5
 
Gene (location): MSX1 (4p16.2)
 
Monarch Initiative: MONDO:0012142
OMIM®: 608874

Definition

Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. [from MONDO]

Clinical features

From HPO
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Professional guidelines

PubMed

Morales CZ, Wagner CS, Humphries LS, Vu GH, Kalmar CL, Bartlett SP, Taylor J, Swanson J
J Craniofac Surg 2022 Jul-Aug 01;33(5):1341-1345. Epub 2022 Jun 27 doi: 10.1097/SCS.0000000000008467. PMID: 35758434
To WW
Hong Kong Med J 2012 Apr;18(2):146-52. PMID: 22477739
Chi CC, Kirtschig G, Aberer W, Gabbud JP, Lipozenčić J, Kárpáti S, Haustein UF, Zuberbier T, Wojnarowska F
Br J Dermatol 2011 Nov;165(5):943-52. Epub 2011 Sep 29 doi: 10.1111/j.1365-2133.2011.10513.x. PMID: 21729030

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