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Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

MedGen UID:
356961
Concept ID:
C1868390
Disease or Syndrome
Synonym: Facioauriculoradial dysplasia
SNOMED CT: Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (715506001); Stoll Lévy Francfort syndrome (715506001)
 
Monarch Initiative: MONDO:0008237
OMIM®: 171480
Orphanet: ORPHA2878

Definition

Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Follow this link to review classifications for Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome in Orphanet.

Professional guidelines

PubMed

Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Wung SF
Crit Care Nurs Clin North Am 2016 Sep;28(3):297-308. Epub 2016 Jun 22 doi: 10.1016/j.cnc.2016.04.003. PMID: 27484658

Recent clinical studies

Etiology

Könemann H, Ellermann C, Zeppenfeld K, Eckardt L
JACC Clin Electrophysiol 2023 May;9(5):715-728. Epub 2023 Feb 22 doi: 10.1016/j.jacep.2022.12.008. PMID: 37225314
Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C
Heart Rhythm 2013 Dec;10(12):1932-63. Epub 2013 Aug 30 doi: 10.1016/j.hrthm.2013.05.014. PMID: 24011539
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M
Hum Mutat 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. PMID: 19862833
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Diagnosis

Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Therapy

Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Bezzerides VJ, Prondzynski M, Carrier L, Pu WT
Cardiovasc Res 2020 Jul 15;116(9):1635-1650. doi: 10.1093/cvr/cvaa107. PMID: 32321160Free PMC Article
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726

Prognosis

Patel N, Donahue C, Shenoy A, Patel A, El-Sherif N
Int J Cardiol 2017 Feb 1;228:967-970. Epub 2016 Nov 9 doi: 10.1016/j.ijcard.2016.11.137. PMID: 27914359
Hayashi M, Shimizu W, Albert CM
Circ Res 2015 Jun 5;116(12):1887-906. doi: 10.1161/CIRCRESAHA.116.304521. PMID: 26044246Free PMC Article
Baruteau AE, Probst V, Abriel H
Curr Opin Cardiol 2015 Jan;30(1):33-9. doi: 10.1097/HCO.0000000000000134. PMID: 25426816
Caro M, Conde D, Pérez-Riera AR, de Almeida AP, Baranchuk A
Cardiol Young 2015 Jan;25(1):8-14. Epub 2014 Apr 2 doi: 10.1017/S1047951114000420. PMID: 24690318
Altemose GT, Buxton AE
Annu Rev Med 1999;50:159-77. doi: 10.1146/annurev.med.50.1.159. PMID: 10073270

Clinical prediction guides

Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
Sandau KE, Funk M, Auerbach A, Barsness GW, Blum K, Cvach M, Lampert R, May JL, McDaniel GM, Perez MV, Sendelbach S, Sommargren CE, Wang PJ; American Heart Association Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Cardiovascular Disease in the Young
Circulation 2017 Nov 7;136(19):e273-e344. Epub 2017 Oct 3 doi: 10.1161/CIR.0000000000000527. PMID: 28974521
Drug Ther Bull 2016 Mar;54(3):33-6. doi: 10.1136/dtb.2016.3.0390. PMID: 26966121
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Recent systematic reviews

Cozma A, Sporis ND, Lazar AL, Buruiana A, Ganea AM, Malinescu TV, Berechet BM, Fodor A, Sitar-Taut AV, Vlad VC, Negrean V, Orasan OH
Int J Mol Sci 2022 Sep 19;23(18) doi: 10.3390/ijms231810948. PMID: 36142866Free PMC Article
Cheng CY, Baritussio A, Giordani AS, Iliceto S, Marcolongo R, Caforio ALP
Autoimmun Rev 2022 Apr;21(4):103037. Epub 2022 Jan 5 doi: 10.1016/j.autrev.2022.103037. PMID: 34995763
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Beach SR, Gross AF, Hartney KE, Taylor JB, Rundell JR
Gen Hosp Psychiatry 2020 Nov-Dec;67:42-50. Epub 2020 Aug 22 doi: 10.1016/j.genhosppsych.2020.08.008. PMID: 32979582
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

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