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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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital.
Moreira T, Dias M, Von Hafe M, Curval AR, Ramalho C, Maia AM, Moura CP; Orofacial Cleft Team of University Hospital Center of São João, EPE
Congenit Anom (Kyoto) 2023 Nov;63(6):195-199. Epub 2023 Aug 31 doi: 10.1111/cga.12538. PMID: 37653578
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.
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
Prenatal diagnosis and assessment of facial clefts: where are we now?
To WW
Hong Kong Med J 2012 Apr;18(2):146-52. PMID: 22477739

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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