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Cleft helix

MedGen UID:
867018
•Concept ID:
C4021376
•
Anatomical Abnormality
Synonyms: Notched helix; Notching of the ear helix
 
HPO: HP:0009902

Definition

A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. [from HPO]

Professional guidelines

PubMed

Rapid palatal expander vs. quad-helix in the orthodontic treatment of cleft lip and palate patients.
Dalessandri D, Tonni I, Dianiskova S, Migliorati M, Bonetti S, Visconti L, Salgarello S, Paganelli C
Minerva Stomatol 2016 Apr;65(2):97-103. Epub 2016 Jan 28 PMID: 26822995
Orthopaedic protraction of the midface in the deciduous dentition. Results covering 3 years out of treatment.
Tindlund RS
J Craniomaxillofac Surg 1989 Dec;17 Suppl 1:17-9. doi: 10.1016/s1010-5182(89)80032-0. PMID: 2691528

Recent clinical studies

Etiology

Rapid maxillary expansion vs slow maxillary expansion in patients with cleft lip and/or palate: a systematic review and meta-analysis.
Luyten J, De Roo NMC, Christiaens J, Van Overberghe L, Temmerman L, De Pauw GAM
Angle Orthod 2023 Jan 1;93(1):95-103. doi: 10.2319/030122-188.1. PMID: 36240430Free PMC Article
Intercenter comparison of slow and rapid maxillary expansion in unilateral complete cleft lip and palate.
Ayub PV, Garib DG, Ebrahim H, Polido J, Blasca W, Yen S
Dental Press J Orthod 2022;27(3):e2220233. Epub 2022 Jul 4 doi: 10.1590/2177-6709.27.3.e2220233.oar. PMID: 35792786Free PMC Article
Facial clefts and facial dysplasia: revisiting the classification.
Mazzola RF, Mazzola IC
J Craniofac Surg 2014 Jan;25(1):26-34. doi: 10.1097/SCS.0b013e3182a2ea94. PMID: 24406554
Functional and structural insights into astacin metallopeptidases.
Gomis-Rüth FX, Trillo-Muyo S, Stöcker W
Biol Chem 2012 Oct;393(10):1027-41. doi: 10.1515/hsz-2012-0149. PMID: 23092796
A look into kinesin's powerhouse.
Woehlke G
FEBS Lett 2001 Nov 23;508(3):291-4. doi: 10.1016/s0014-5793(01)03064-2. PMID: 11728437

Diagnosis

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S
Genes (Basel) 2022 Jan 13;13(1) doi: 10.3390/genes13010137. PMID: 35052477Free PMC Article
Structural Characterization of a Minimal Antibody against Human APOBEC3B.
Tang H, Demir Ö, Kurniawan F, Brown WL, Shi K, Moeller NH, Carpenter MA, Belica C, Orellana K, Du G, LeBeau AM, Amaro RE, Harris RS, Aihara H
Viruses 2021 Apr 12;13(4) doi: 10.3390/v13040663. PMID: 33921405Free PMC Article
Facial clefts and facial dysplasia: revisiting the classification.
Mazzola RF, Mazzola IC
J Craniofac Surg 2014 Jan;25(1):26-34. doi: 10.1097/SCS.0b013e3182a2ea94. PMID: 24406554
Novel features in auriculo-condylar syndrome.
McGowan R, Murday V, Kinning E, Garcia S, Koppel D, Whiteford M
Clin Dysmorphol 2011 Jan;20(1):1-10. doi: 10.1097/MCD.0b013e32833e56f5. PMID: 20733479
The Roberts' syndrome.
Waldenmaier C, Aldenhoff P, Klemm T
Hum Genet 1978 Feb 16;40(3):345-9. doi: 10.1007/BF00272196. PMID: 631853

Therapy

Rapid maxillary expansion vs slow maxillary expansion in patients with cleft lip and/or palate: a systematic review and meta-analysis.
Luyten J, De Roo NMC, Christiaens J, Van Overberghe L, Temmerman L, De Pauw GAM
Angle Orthod 2023 Jan 1;93(1):95-103. doi: 10.2319/030122-188.1. PMID: 36240430Free PMC Article
Rapid palatal expander vs. quad-helix in the orthodontic treatment of cleft lip and palate patients.
Dalessandri D, Tonni I, Dianiskova S, Migliorati M, Bonetti S, Visconti L, Salgarello S, Paganelli C
Minerva Stomatol 2016 Apr;65(2):97-103. Epub 2016 Jan 28 PMID: 26822995
Therapeutics for Alzheimer's disease based on the metal hypothesis.
Bush AI, Tanzi RE
Neurotherapeutics 2008 Jul;5(3):421-32. doi: 10.1016/j.nurt.2008.05.001. PMID: 18625454Free PMC Article
Ah receptor: dioxin-mediated toxic responses as hints to deregulated physiologic functions.
Bock KW, Köhle C
Biochem Pharmacol 2006 Aug 14;72(4):393-404. Epub 2006 Mar 20 doi: 10.1016/j.bcp.2006.01.017. PMID: 16545780
Heparan sulphate N-sulphotransferase activity: reaction mechanism and substrate recognition.
Kakuta Y, Li L, Pedersen LC, Pedersen LG, Negishi M
Biochem Soc Trans 2003 Apr;31(2):331-4. doi: 10.1042/bst0310331. PMID: 12653630

Prognosis

Structural Characterization of a Minimal Antibody against Human APOBEC3B.
Tang H, Demir Ö, Kurniawan F, Brown WL, Shi K, Moeller NH, Carpenter MA, Belica C, Orellana K, Du G, LeBeau AM, Amaro RE, Harris RS, Aihara H
Viruses 2021 Apr 12;13(4) doi: 10.3390/v13040663. PMID: 33921405Free PMC Article
Structural modeling of human organic cation transporters.
Dakal TC, Kumar R, Ramotar D
Comput Biol Chem 2017 Jun;68:153-163. Epub 2017 Mar 18 doi: 10.1016/j.compbiolchem.2017.03.007. PMID: 28343125
Gating Motions and Stationary Gating Properties of Ionotropic Glutamate Receptors: Computation Meets Electrophysiology.
Zhou HX
Acc Chem Res 2017 Apr 18;50(4):814-822. Epub 2017 Feb 10 doi: 10.1021/acs.accounts.6b00598. PMID: 28186717Free PMC Article
Therapeutics for Alzheimer's disease based on the metal hypothesis.
Bush AI, Tanzi RE
Neurotherapeutics 2008 Jul;5(3):421-32. doi: 10.1016/j.nurt.2008.05.001. PMID: 18625454Free PMC Article
Ca2+ -ATPase structure in the E1 and E2 conformations: mechanism, helix-helix and helix-lipid interactions.
Lee AG
Biochim Biophys Acta 2002 Oct 11;1565(2):246-66. doi: 10.1016/s0005-2736(02)00573-4. PMID: 12409199

Clinical prediction guides

Structural modeling of human organic cation transporters.
Dakal TC, Kumar R, Ramotar D
Comput Biol Chem 2017 Jun;68:153-163. Epub 2017 Mar 18 doi: 10.1016/j.compbiolchem.2017.03.007. PMID: 28343125
Gating Motions and Stationary Gating Properties of Ionotropic Glutamate Receptors: Computation Meets Electrophysiology.
Zhou HX
Acc Chem Res 2017 Apr 18;50(4):814-822. Epub 2017 Feb 10 doi: 10.1021/acs.accounts.6b00598. PMID: 28186717Free PMC Article
Facial clefts and facial dysplasia: revisiting the classification.
Mazzola RF, Mazzola IC
J Craniofac Surg 2014 Jan;25(1):26-34. doi: 10.1097/SCS.0b013e3182a2ea94. PMID: 24406554
A standard orientation for metallopeptidases.
Gomis-Rüth FX, Botelho TO, Bode W
Biochim Biophys Acta 2012 Jan;1824(1):157-63. Epub 2011 Apr 30 doi: 10.1016/j.bbapap.2011.04.014. PMID: 21558023
Therapeutics for Alzheimer's disease based on the metal hypothesis.
Bush AI, Tanzi RE
Neurotherapeutics 2008 Jul;5(3):421-32. doi: 10.1016/j.nurt.2008.05.001. PMID: 18625454Free PMC Article

Recent systematic reviews

Rapid maxillary expansion vs slow maxillary expansion in patients with cleft lip and/or palate: a systematic review and meta-analysis.
Luyten J, De Roo NMC, Christiaens J, Van Overberghe L, Temmerman L, De Pauw GAM
Angle Orthod 2023 Jan 1;93(1):95-103. doi: 10.2319/030122-188.1. PMID: 36240430Free PMC Article
A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.
Linnenkamp BDW, Raskin S, Esposito SE, Herai RH
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108319. Epub 2020 Jun 5 doi: 10.1016/j.mrrev.2020.108319. PMID: 32800270

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