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Cleft uvula

MedGen UID:
75600
•Concept ID:
C0266122
•
Congenital Abnormality
Synonym: UVULA, CLEFT
SNOMED CT: Cleft uvula (18910001)
 
OMIM®: 192100

Professional guidelines

PubMed

Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.
Mui Lee L, Ma L, Jun Li T
Cleft Palate Craniofac J 2017 May;54(3):338-342. doi: 10.1597/14-323. PMID: 28471735

Recent clinical studies

Etiology

Auriculo-condylar syndrome: further evidence for a new disorder.
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S
Am J Med Genet 1999 Sep 10;86(2):130-3. doi: 10.1002/(sici)1096-8628(19990910)86:2<130::aid-ajmg8>3.0.co;2-o. PMID: 10449647
Oral aspects of Rubinstein-Taybi syndrome.
Hennekam RC, Van Doorne JM
Am J Med Genet Suppl 1990;6:42-7. doi: 10.1002/ajmg.1320370607. PMID: 2118777
Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).
Schinzel A
J Med Genet 1981 Feb;18(1):64-8. doi: 10.1136/jmg.18.1.64. PMID: 7253002Free PMC Article
Cleft uvula: prevalence and genetics.
Chosack A, Eidelman E
Cleft Palate J 1978 Jan;15(1):63-7. PMID: 272244
Cleft uvula: a microform of facial clefts and its genetic basis.
Shapiro BL, Meskin LH, Cervenka J, Pruzansky S
Birth Defects Orig Artic Ser 1971 Jun;7(7):80-2. PMID: 5173247

Diagnosis

Prevalence of bifid uvula in primary school children.
Feka P, Banon J, Leuchter I, La Scala GC
Int J Pediatr Otorhinolaryngol 2019 Jan;116:88-91. Epub 2018 Oct 22 doi: 10.1016/j.ijporl.2018.10.026. PMID: 30554716
Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.
Mui Lee L, Ma L, Jun Li T
Cleft Palate Craniofac J 2017 May;54(3):338-342. doi: 10.1597/14-323. PMID: 28471735
Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease.
Socha P, Vajro P, Lefeber D, Adamowicz M, Tanner S
Clin Res Hepatol Gastroenterol 2014 Sep;38(4):403-6. Epub 2014 Jun 25 doi: 10.1016/j.clinre.2014.04.012. PMID: 24972800
Oral aspects of Rubinstein-Taybi syndrome.
Hennekam RC, Van Doorne JM
Am J Med Genet Suppl 1990;6:42-7. doi: 10.1002/ajmg.1320370607. PMID: 2118777
Cleft uvula.
Bagatin M
Acta Chir Plast 1985;27(4):202-6. PMID: 3879421

Prognosis

Prevalence of bifid uvula in primary school children.
Feka P, Banon J, Leuchter I, La Scala GC
Int J Pediatr Otorhinolaryngol 2019 Jan;116:88-91. Epub 2018 Oct 22 doi: 10.1016/j.ijporl.2018.10.026. PMID: 30554716
Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
Loewenthal N, Haim A, Parvari R, Hershkovitz E
Am J Med Genet A 2015 Dec;167A(12):3139-43. Epub 2015 Aug 19 doi: 10.1002/ajmg.a.37294. PMID: 26768186
Auriculo-condylar syndrome: further evidence for a new disorder.
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S
Am J Med Genet 1999 Sep 10;86(2):130-3. doi: 10.1002/(sici)1096-8628(19990910)86:2<130::aid-ajmg8>3.0.co;2-o. PMID: 10449647
Oral aspects of Rubinstein-Taybi syndrome.
Hennekam RC, Van Doorne JM
Am J Med Genet Suppl 1990;6:42-7. doi: 10.1002/ajmg.1320370607. PMID: 2118777
Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).
Schinzel A
J Med Genet 1981 Feb;18(1):64-8. doi: 10.1136/jmg.18.1.64. PMID: 7253002Free PMC Article

Clinical prediction guides

Prevalence of bifid uvula in primary school children.
Feka P, Banon J, Leuchter I, La Scala GC
Int J Pediatr Otorhinolaryngol 2019 Jan;116:88-91. Epub 2018 Oct 22 doi: 10.1016/j.ijporl.2018.10.026. PMID: 30554716
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.
Jezela-Stanek A, Kucharczyk M, Pelc M, Gutkowska A, Krajewska-Walasek M
Am J Med Genet A 2013 Jan;161A(1):172-8. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35654. PMID: 23165892
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.
Lumaka A, Van Hole C, Casteels I, Ortibus E, De Wolf V, Vermeesch JR, Lukusa T, Devriendt K
Am J Med Genet A 2012 Jun;158A(6):1381-7. Epub 2012 May 11 doi: 10.1002/ajmg.a.35353. PMID: 22581619
Prevalence of cleft uvula among school children in kindergarten through grade five.
Wharton P, Mowrer DE
Cleft Palate Craniofac J 1992 Jan;29(1):10-2; discussion 13-4. doi: 10.1597/1545-1569_1992_029_0010_pocuas_2.3.co_2. PMID: 1547244

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