Orofacial cleft 8(OFC8)

MedGen UID:: 377541
•Concept ID:: C1851878
•: Disease or Syndrome

Synonym:	Cleft lip with or without cleft palate, nonsyndromic, 8

Gene (location): Gene(s) directly associated with this condition or phenotype.	TP63 (3q28)

Monarch Initiative:	MONDO:0029145
OMIM®:	618149

Authors:

Additional description

From OMIM
Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip (Leoyklang et al., 2006; Basha et al., 2018). http://www.omim.org/entry/618149

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 8

Recent clinical studies

Diagnosis

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ
Eur J Med Genet 2024 Apr;68:104911. Epub 2024 Jan 26 doi: 10.1016/j.ejmg.2024.104911. PMID: 38281558

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Orofacial cleft 8(OFC8)

Additional description

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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