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Transverse facial cleft

MedGen UID:
866608
Concept ID:
C4020954
Anatomical Abnormality
Synonym: Lateral facial cleft
 
HPO: HP:0100731
Orphanet: ORPHA141269

Definition

A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. [from HPO]

Conditions with this feature

Craniofacial microsomia 1
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

Professional guidelines

PubMed

Wang FJ, Xu F, Xiao LH, Qin F, Zhang LH, Wang L, Qi XQ, Weng CY
Eur Arch Otorhinolaryngol 2024 Jan;281(1):419-425. Epub 2023 Sep 6 doi: 10.1007/s00405-023-08209-0. PMID: 37673830
Kapila SD, Nervina JM
Dentomaxillofac Radiol 2015;44(1):20140282. doi: 10.1259/dmfr.20140282. PMID: 25358833Free PMC Article
Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL
J Dent Child (Chic) 2012 Jan-Apr;79(1):15-21. PMID: 22449504

Recent clinical studies

Etiology

Kim JH, Lim SY
Cleft Palate Craniofac J 2024 Feb;61(2):326-331. Epub 2023 Dec 13 doi: 10.1177/10556656231207205. PMID: 38092680
Zhou L, Zhu H, Shi D, Ren D, Cui Y, Zhao J, Hou Y, Xu T
J Plast Reconstr Aesthet Surg 2019 Dec;72(12):2041-2048. Epub 2019 Sep 9 doi: 10.1016/j.bjps.2019.08.003. PMID: 31562029
Tse RW, Knight RJ, Fisher DM
J Plast Reconstr Aesthet Surg 2018 Nov;71(11):1600-1608. Epub 2018 Jun 12 doi: 10.1016/j.bjps.2018.05.020. PMID: 30327120
Kajikawa A, Ueda K, Katsuragi Y, Hirose T, Asai E
J Plast Reconstr Aesthet Surg 2010 Aug;63(8):1269-74. Epub 2009 Aug 25 doi: 10.1016/j.bjps.2009.07.024. PMID: 19709939
Chen KT, Noordholff SM
Changgeng Yi Xue Za Zhi 1994 Sep;17(3):239-47. PMID: 7954003

Diagnosis

Kirbschus A, Gesch D, Kaduk W, Gedrange T
J Orofac Orthop 2006 May;67(3):215-24. doi: 10.1007/s00056-006-0602-0. PMID: 16736122
Aygit AC, Ayhan MS, Orak F
Cleft Palate Craniofac J 1999 Sep;36(5):448-9. doi: 10.1597/1545-1569_1999_036_0448_altfcw_2.3.co_2. PMID: 10499407

Therapy

Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106

Prognosis

Zhou P, Qiu L, Liu Y, Li T, Ding X
J Plast Surg Hand Surg 2019 Aug;53(4):240-246. Epub 2019 May 22 doi: 10.1080/2000656X.2019.1588739. PMID: 31116613
Tse RW, Knight RJ, Fisher DM
J Plast Reconstr Aesthet Surg 2018 Nov;71(11):1600-1608. Epub 2018 Jun 12 doi: 10.1016/j.bjps.2018.05.020. PMID: 30327120
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106
Kajikawa A, Ueda K, Katsuragi Y, Hirose T, Asai E
J Plast Reconstr Aesthet Surg 2010 Aug;63(8):1269-74. Epub 2009 Aug 25 doi: 10.1016/j.bjps.2009.07.024. PMID: 19709939
Rogers GF, Mulliken JB
Plast Reconstr Surg 2007 Sep;120(3):728-737. doi: 10.1097/01.prs.0000270308.51699.40. PMID: 17700125

Clinical prediction guides

Kim JH, Lim SY
Cleft Palate Craniofac J 2024 Feb;61(2):326-331. Epub 2023 Dec 13 doi: 10.1177/10556656231207205. PMID: 38092680
Zhou L, Zhu H, Shi D, Ren D, Cui Y, Zhao J, Hou Y, Xu T
J Plast Reconstr Aesthet Surg 2019 Dec;72(12):2041-2048. Epub 2019 Sep 9 doi: 10.1016/j.bjps.2019.08.003. PMID: 31562029
Zhou P, Qiu L, Liu Y, Li T, Ding X
J Plast Surg Hand Surg 2019 Aug;53(4):240-246. Epub 2019 May 22 doi: 10.1080/2000656X.2019.1588739. PMID: 31116613
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106

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