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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
 
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

Professional guidelines

PubMed

Silva IMW, Tacla MA, Ribeiro EM, Lustosa-Mendes E, Fett-Conte AC, Félix TM, Xavier AC, Monlleó IL, Gil-da-Silva-Lopes VL
J Pediatr (Rio J) 2024 Nov-Dec;100(6):604-608. Epub 2024 Jul 22 doi: 10.1016/j.jped.2024.07.002. PMID: 39053888Free PMC Article
Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. PMID: 37647086Free PMC Article
To WW
Hong Kong Med J 2012 Apr;18(2):146-52. PMID: 22477739

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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