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Abnormality of the philtrum

MedGen UID:
384043
Concept ID:
C1857045
Finding
Synonyms: Abnormal philtrum; Philtrum abnormalities
 
HPO: HP:0000288

Definition

An abnormality of the philtrum. [from HPO]

Conditions with this feature

Cleft lip/palate-ectodermal dysplasia syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.
Schaaf-Yang syndrome
MedGen UID:
1807366
Concept ID:
C5575066
Disease or Syndrome
Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder that shares multiple clinical features with the genetically related Prader-Willi syndrome. It usually manifests at birth with muscular hypotonia in all and distal joint contractures in a majority of affected individuals. Gastrointestinal/feeding problems are particularly pronounced in infancy and childhood, but can transition to hyperphagia and obesity in adulthood. Respiratory distress is present in many individuals at birth, with approximately half requiring intubation and mechanical ventilation, and approximately 20% requiring tracheostomy. Skeletal manifestations such as joint contractures, scoliosis, and decreased bone mineral density are frequently observed. All affected individuals show developmental delay, resulting in intellectual disability of variable degree, from low-normal intelligence to severe intellectual disability. Other findings may include short stature, seizures, eye anomalies, and hypogonadism.

Professional guidelines

PubMed

Kobus K, Kobus-Zaleśna K
Adv Clin Exp Med 2017 Nov;26(8):1301-1311. doi: 10.17219/acem/68976. PMID: 29264890
Santiago PE, Schuster LA, Levy-Bercowski D
Clin Plast Surg 2014 Apr;41(2):219-32. doi: 10.1016/j.cps.2014.01.001. PMID: 24607190
Silberberg N, Goldstein M, Smidt A
Quintessence Int 2009 Nov-Dec;40(10):809-18. PMID: 19898712

Recent clinical studies

Etiology

Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Nur Yilmaz RB, Germeç Çakan D
J Craniofac Surg 2018 Jun;29(4):1012-1016. doi: 10.1097/SCS.0000000000004427. PMID: 29489580
Sohail M, Bashir MM, Ansari HH, Khan FA, Assumame N, Awan NU, Chatha AA
J Craniofac Surg 2016 Sep;27(6):e520-4. doi: 10.1097/SCS.0000000000002824. PMID: 27607127
Kuijpers MA, Desmedt DJ, Nada RM, Bergé SJ, Fudalej PS, Maal TJ
Eur J Orthod 2015 Dec;37(6):636-42. Epub 2015 Feb 19 doi: 10.1093/ejo/cju104. PMID: 25700990
Chen S, Cai Y, Chen F
Head Face Med 2014 Aug 26;10:33. doi: 10.1186/1746-160X-10-33. PMID: 25159036Free PMC Article

Diagnosis

Menderes A, Ateşşahin FB, Babahan T, Terzi M, Atalmiş SE, Çağli HB
J Craniofac Surg 2023 Nov-Dec 01;34(8):e780-e781. Epub 2023 Aug 21 doi: 10.1097/SCS.0000000000009647. PMID: 37603894
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Aggarwal AN, Goyal MK, Rishi Gupta N
JNMA J Nepal Med Assoc 2009 Apr-Jun;48(174):153-4. PMID: 20387358
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

Therapy

Lee KS, Choi YJ, Cho J, Lee H, Lee H, Park SJ, Park JS, Hong YC
J Korean Med Sci 2021 Jul 19;36(28):e183. doi: 10.3346/jkms.2021.36.e183. PMID: 34282604Free PMC Article
Sarmadi R, Gabre P, Thor A
Clin Exp Dent Res 2021 Aug;7(4):522-530. Epub 2020 Dec 25 doi: 10.1002/cre2.374. PMID: 33369213Free PMC Article
Huybrechts KF, Hernandez-Diaz S, Straub L, Gray KJ, Zhu Y, Mogun H, Bateman BT
JAMA 2020 Jan 28;323(4):372-374. doi: 10.1001/jama.2019.18587. PMID: 31730152Free PMC Article
De-Regil LM, Peña-Rosas JP, Fernández-Gaxiola AC, Rayco-Solon P
Cochrane Database Syst Rev 2015 Dec 14;2015(12):CD007950. doi: 10.1002/14651858.CD007950.pub3. PMID: 26662928Free PMC Article
Kutuk MS, Ozgun MT, Uludag S, Akgun H, Balta B
Fetal Pediatr Pathol 2013 Oct;32(5):371-4. Epub 2013 Apr 22 doi: 10.3109/15513815.2013.789946. PMID: 23607868

Prognosis

Menderes A, Ateşşahin FB, Babahan T, Terzi M, Atalmiş SE, Çağli HB
J Craniofac Surg 2023 Nov-Dec 01;34(8):e780-e781. Epub 2023 Aug 21 doi: 10.1097/SCS.0000000000009647. PMID: 37603894
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Adya KA, Inamadar AC, Palit A
Int J Dermatol 2017 Jan;56(1):3-17. Epub 2016 Sep 9 doi: 10.1111/ijd.13358. PMID: 27613605
Raphael P, Harris R, Harris SW
Aesthet Surg J 2014 Mar;34(3):457-68. Epub 2014 Mar 6 doi: 10.1177/1090820X14524769. PMID: 24604786
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Clinical prediction guides

Gatti JE
Plast Reconstr Surg 2023 Oct 1;152(4):765-772. Epub 2023 Mar 7 doi: 10.1097/PRS.0000000000010361. PMID: 36877617
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
Nguyen VT, Nguyen T, Jagomägi T
J Craniomaxillofac Surg 2018 Aug;46(8):1385-1389. Epub 2018 May 18 doi: 10.1016/j.jcms.2018.05.029. PMID: 29861405
Waller DK, Hashmi SS, Hoyt AT, Duong HT, Tinker SC, Gallaway MS, Olney RS, Finnell RH, Hecht JT, Canfield MA; National Birth Defects Prevention Study
Birth Defects Res 2018 Mar 1;110(4):342-351. Epub 2017 Nov 2 doi: 10.1002/bdr2.1147. PMID: 29094488Free PMC Article
Stothard KJ, Tennant PW, Bell R, Rankin J
JAMA 2009 Feb 11;301(6):636-50. doi: 10.1001/jama.2009.113. PMID: 19211471

Recent systematic reviews

Tadros S, Ben-Dov T, Catháin ÉÓ, Anglin C, April MM
Int J Pediatr Otorhinolaryngol 2022 May;156:111063. Epub 2022 Feb 26 doi: 10.1016/j.ijporl.2022.111063. PMID: 35248905
Salari N, Darvishi N, Heydari M, Bokaee S, Darvishi F, Mohammadi M
J Stomatol Oral Maxillofac Surg 2022 Apr;123(2):110-120. Epub 2021 May 24 doi: 10.1016/j.jormas.2021.05.008. PMID: 34033944
Roth D, Pace NL, Lee A, Hovhannisyan K, Warenits AM, Arrich J, Herkner H
Cochrane Database Syst Rev 2018 May 15;5(5):CD008874. doi: 10.1002/14651858.CD008874.pub2. PMID: 29761867Free PMC Article
Duarte GA, Ramos RB, Cardoso MC
Braz J Otorhinolaryngol 2016 Sep-Oct;82(5):602-9. Epub 2016 Mar 2 doi: 10.1016/j.bjorl.2015.10.020. PMID: 26997574Free PMC Article
De-Regil LM, Peña-Rosas JP, Fernández-Gaxiola AC, Rayco-Solon P
Cochrane Database Syst Rev 2015 Dec 14;2015(12):CD007950. doi: 10.1002/14651858.CD007950.pub3. PMID: 26662928Free PMC Article

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