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Unilateral cleft lip

MedGen UID:
451047
Concept ID:
C0392006
Congenital Abnormality
Synonym: Cleft lip, unilateral
 
HPO: HP:0100333

Definition

A non-midline cleft of the upper lip on one side only. [from HPO]

Term Hierarchy

Conditions with this feature

Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Orofacial cleft 10
MedGen UID:
355621
Concept ID:
C1866070
Congenital Abnormality
Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.
X-linked Opitz G/BBB syndrome
MedGen UID:
424842
Concept ID:
C2936904
Disease or Syndrome
X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 50% of affected males. Cleft lip and/or palate are present in approximately 50% of affected individuals. Other malformations (present in <50% of individuals) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.
Complex lethal osteochondrodysplasia
MedGen UID:
900688
Concept ID:
C4225162
Disease or Syndrome
Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
MedGen UID:
1777442
Concept ID:
C5436821
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by Humbert et al., 2020).
Vertebral hypersegmentation and orofacial anomalies
MedGen UID:
1746640
Concept ID:
C5436851
Disease or Syndrome
Vertebral hypersegmentation and orofacial anomalies (VHO) is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs. Most patients also exhibit orofacial clefting and ear anomalies (Cox et al., 2019).

Professional guidelines

PubMed

Di Chiaro B, Santiago G, Santiago C, Zelko I, Choudhary A, Purnell CA
J Craniofac Surg 2022 Nov-Dec 01;33(8):2406-2410. Epub 2022 Aug 2 doi: 10.1097/SCS.0000000000008797. PMID: 36409865
Stonehouse-Smith D, Rahman ANAA, Mooney J, Bellardie H
Cleft Palate Craniofac J 2022 Jan;59(1):79-85. Epub 2021 Mar 24 doi: 10.1177/1055665621996116. PMID: 33757373
Shaw W, Semb G
J Plast Surg Hand Surg 2017 Feb;51(1):88-93. doi: 10.1080/2000656X.2016.1254644. PMID: 28218554

Recent clinical studies

Etiology

Assouline-Vitale SL, Ruffenach L, Bodin F, Zink S, Romary B, Bruant-Rodier C, Dissaux C
Ann Chir Plast Esthet 2023 Apr;68(2):131-138. Epub 2022 Aug 1 doi: 10.1016/j.anplas.2022.06.003. PMID: 35927106
Benitez BK, Brudnicki A, Surowiec Z, Singh RK, Nalabothu P, Schumann D, Mueller AA
J Craniomaxillofac Surg 2022 Jan;50(1):76-85. Epub 2021 Aug 3 doi: 10.1016/j.jcms.2021.07.002. PMID: 34896005
Grewal JS, Yanik SC, Strohl-Bryan AM, Tatum SA
Am J Otolaryngol 2021 May-Jun;42(3):102908. Epub 2021 Jan 13 doi: 10.1016/j.amjoto.2021.102908. PMID: 33508593
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748
Fisher DM
Plast Reconstr Surg 2005 Jul;116(1):61-71. doi: 10.1097/01.prs.0000169693.87591.9b. PMID: 15988248

Diagnosis

Assouline-Vitale SL, Ruffenach L, Bodin F, Zink S, Romary B, Bruant-Rodier C, Dissaux C
Ann Chir Plast Esthet 2023 Apr;68(2):131-138. Epub 2022 Aug 1 doi: 10.1016/j.anplas.2022.06.003. PMID: 35927106
Xue AS, Buchanan EP, Hollier LH
Plast Reconstr Surg 2021 Aug 1;148(2):262e-274e. doi: 10.1097/PRS.0000000000008141. PMID: 34398098
Moreau A, Charpuis-Vandenbogaerde C, Neiva-Vaz C, Sanquer E, Soupre V, Vazquez MP, Picard A, Kadlub N
J Stomatol Oral Maxillofac Surg 2021 Apr;122(2):147-150. Epub 2020 May 23 doi: 10.1016/j.jormas.2020.05.015. PMID: 32450319
Monson LA, Khechoyan DY, Buchanan EP, Hollier LH Jr
Clin Plast Surg 2014 Apr;41(2):301-9. Epub 2014 Feb 13 doi: 10.1016/j.cps.2013.12.008. PMID: 24607196
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748

Therapy

Wadde K, Chowdhar A, Venkatakrishnan L, Ghodake M, Sachdev SS, Chhapane A
J Stomatol Oral Maxillofac Surg 2023 Apr;124(2):101338. Epub 2022 Nov 21 doi: 10.1016/j.jormas.2022.11.014. PMID: 36410660
Maximino LP, Marcelino FC, Cavalheiro MG, Abramides DVM, Caldana ML, Corrêa CC, Lauris JRP, Feniman MR
Acta Otorrinolaringol Esp (Engl Ed) 2022 May-Jun;73(3):157-163. doi: 10.1016/j.otoeng.2020.11.005. PMID: 35577431
O'Mahony A, McNamara C, Ireland A, Sandy J, Puryer J
Br Dent J 2017 May 12;222(9):677-681. doi: 10.1038/sj.bdj.2017.405. PMID: 28496230
Shaw W, Semb G
J Plast Surg Hand Surg 2017 Feb;51(1):88-93. doi: 10.1080/2000656X.2016.1254644. PMID: 28218554
Rautio J, Andersen M, Bolund S, Hukki J, Vindenes H, Davenport P, Arctander K, Larson O, Berggren A, Åbyholm F, Whitby D, Leonard A, Lilja J, Neovius E, Elander A, Heliövaara A, Eyres P, Semb G
J Plast Surg Hand Surg 2017 Feb;51(1):14-20. doi: 10.1080/2000656X.2016.1254646. PMID: 28218552

Prognosis

Onah II, Okwesili OR
Niger J Clin Pract 2023 Aug;26(8):1192-1196. doi: 10.4103/njcp.njcp_34_23. PMID: 37635616
Chouairi F, Mets EJ, Torabi SJ, Alperovich M
J Plast Surg Hand Surg 2020 Feb;54(1):29-32. Epub 2019 Sep 16 doi: 10.1080/2000656X.2019.1661848. PMID: 31524555
Greives MR, Camison L, Losee JE
Plast Reconstr Surg 2014 Dec;134(6):1372-1380. doi: 10.1097/PRS.0000000000000721. PMID: 25415100
Fisher DM, Sommerlad BC
Plast Reconstr Surg 2011 Oct;128(4):342e-360e. doi: 10.1097/PRS.0b013e3182268e1b. PMID: 21921748
Salyer KE, Genecov ER, Genecov DG
Clin Plast Surg 2004 Apr;31(2):191-208. doi: 10.1016/S0094-1298(03)00128-7. PMID: 15145662

Clinical prediction guides

Onah II, Okwesili OR
Niger J Clin Pract 2023 Aug;26(8):1192-1196. doi: 10.4103/njcp.njcp_34_23. PMID: 37635616
Assouline-Vitale SL, Ruffenach L, Bodin F, Zink S, Romary B, Bruant-Rodier C, Dissaux C
Ann Chir Plast Esthet 2023 Apr;68(2):131-138. Epub 2022 Aug 1 doi: 10.1016/j.anplas.2022.06.003. PMID: 35927106
Raghuram AC, Jacob L, Wlodarczyk JR, Munabi NCO, Tomaro M, Nagengast E, Chong DK, Yao CA, Magee WP 3rd
J Craniofac Surg 2021 Sep 1;32(6):2068-2073. doi: 10.1097/SCS.0000000000007635. PMID: 33770042
Grewal JS, Yanik SC, Strohl-Bryan AM, Tatum SA
Am J Otolaryngol 2021 May-Jun;42(3):102908. Epub 2021 Jan 13 doi: 10.1016/j.amjoto.2021.102908. PMID: 33508593
Salyer KE, Genecov ER, Genecov DG
Clin Plast Surg 2004 Apr;31(2):191-208. doi: 10.1016/S0094-1298(03)00128-7. PMID: 15145662

Recent systematic reviews

Wadde K, Chowdhar A, Venkatakrishnan L, Ghodake M, Sachdev SS, Chhapane A
J Stomatol Oral Maxillofac Surg 2023 Apr;124(2):101338. Epub 2022 Nov 21 doi: 10.1016/j.jormas.2022.11.014. PMID: 36410660
Zelko I, Zielinski E, Santiago CN, Alkureishi LWT, Purnell CA
Plast Reconstr Surg 2023 Mar 1;151(3):452e-462e. Epub 2022 Nov 22 doi: 10.1097/PRS.0000000000009924. PMID: 36409217
Murugan C, Kailasam V
Cleft Palate Craniofac J 2023 Jan;60(1):39-54. Epub 2021 Nov 17 doi: 10.1177/10556656211053545. PMID: 34787478
Di Chiaro B, Santiago G, Santiago C, Zelko I, Choudhary A, Purnell CA
J Craniofac Surg 2022 Nov-Dec 01;33(8):2406-2410. Epub 2022 Aug 2 doi: 10.1097/SCS.0000000000008797. PMID: 36409865
Sitzman TJ, Coyne SM, Britto MT
Cleft Palate Craniofac J 2016 Jul;53(4):84-94. Epub 2015 Aug 6 doi: 10.1597/14-202. PMID: 26247708

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