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): Gene(s) directly associated with this condition or phenotype.	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.

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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).

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Abnormality of head or neck
- Cleft palate
- Cleft upper lip

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOrofacial cleft
- CROGVOrofacial cleft 1
- CROGVOrofacial cleft 2
- CROGVOrofacial cleft 3
- CROGVOrofacial cleft 4
- CROGVOrofacial cleft 5
- CROGVOrofacial cleft 8
- CROGVOrofacial cleft 9
- CROGVOrofacial cleft 10
- CROGVOrofacial cleft 11
- CROGVOrofacial cleft 12
- CROGVOrofacial cleft 13
- CROGVOrofacial cleft 6, susceptibility to

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Craniofacial cleft
      - Orofacial cleft
        Orofacial cleft 5

Professional guidelines

PubMed

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: 37647086 Free 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

Evidence-based (S3) guideline on topical corticosteroids in pregnancy.

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

See all (22)

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Orofacial cleft 5(OFC5)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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