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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): TP63 (3q28)
 
Monarch Initiative: MONDO:0029145
OMIM®: 618149

Disease characteristics

Excerpted from the GeneReview: TP63-Related Disorders
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. [from GeneReviews]
Authors:
V Reid Sutton  |  Hans van Bokhoven   view full author information

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

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
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

Recent clinical studies

Diagnosis

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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