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Syndactyly-polydactyly-ear lobe syndrome

MedGen UID:
348333
Concept ID:
C1861347
Disease or Syndrome
Synonyms: Hallux syndactyly ulnar polydactyly abnormal ear lobes; Syndactyly-polydactyly-earlobe syndrome
 
Monarch Initiative: MONDO:0008517
OMIM®: 186350
Orphanet: ORPHA3259

Definition

A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. [from ORDO]

Clinical features

From HPO
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Broad toe
MedGen UID:
351283
Concept ID:
C1865038
Finding
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Bifid distal phalanx of toe
MedGen UID:
867402
Concept ID:
C4021772
Anatomical Abnormality
1-2 toe complete cutaneous syndactyly
MedGen UID:
870686
Concept ID:
C4025140
Anatomical Abnormality
Abnormal earlobe morphology
MedGen UID:
867434
Concept ID:
C4021808
Anatomical Abnormality
An abnormality of the lobule of pinna.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSyndactyly-polydactyly-ear lobe syndrome
Follow this link to review classifications for Syndactyly-polydactyly-ear lobe syndrome in Orphanet.

Professional guidelines

PubMed

Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P
Epilepsia 2022 Jun;63(6):1443-1474. Epub 2022 May 3 doi: 10.1111/epi.17240. PMID: 35503725
Bradshaw MJ, Venkatesan A
Semin Neurol 2019 Feb;39(1):82-101. Epub 2019 Feb 11 doi: 10.1055/s-0038-1676845. PMID: 30743295
Rockett M
Curr Opin Anaesthesiol 2014 Oct;27(5):494-500. doi: 10.1097/ACO.0000000000000114. PMID: 25111604

Recent clinical studies

Etiology

Duncan JS, Trimmel K
Curr Opin Neurol 2022 Apr 1;35(2):189-195. doi: 10.1097/WCO.0000000000001007. PMID: 34812749
Moraska AF, Schmiege SJ, Mann JD, Butryn N, Krutsch JP
Am J Phys Med Rehabil 2017 Sep;96(9):639-645. doi: 10.1097/PHM.0000000000000728. PMID: 28248690Free PMC Article
Serafini A, Lukas RV, VanHaerents S, Warnke P, Tao JX, Rose S, Wu S
Epilepsy Behav 2016 Aug;61:51-58. Epub 2016 Jun 12 doi: 10.1016/j.yebeh.2016.04.046. PMID: 27304613
Thom M
Neuropathol Appl Neurobiol 2014 Aug;40(5):520-43. doi: 10.1111/nan.12150. PMID: 24762203Free PMC Article
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266

Diagnosis

Jellinger KA
J Neural Transm (Vienna) 2022 Jun;129(5-6):521-543. Epub 2021 Aug 7 doi: 10.1007/s00702-021-02392-2. PMID: 34363531
Steinlein OK
Expert Rev Neurother 2009 Jun;9(6):825-33. doi: 10.1586/ern.09.49. PMID: 19496686
Parisi P, Villa MP, Pelliccia A, Rollo VC, Chiarelli F, Verrotti A
Neurol Sci 2007 Apr;28(2):72-9. doi: 10.1007/s10072-007-0790-4. PMID: 17464469
Schmahmann JD, Sherman JC
Brain 1998 Apr;121 ( Pt 4):561-79. doi: 10.1093/brain/121.4.561. PMID: 9577385
Dulac O, N'Guyen T
Epilepsia 1993;34 Suppl 7:S7-17. doi: 10.1111/j.1528-1157.1993.tb04593.x. PMID: 8243377

Therapy

Stavrakis S, Chakraborty P, Farhat K, Whyte S, Morris L, Abideen Asad ZU, Karfonta B, Anjum J, Matlock HG, Cai X, Yu X
JACC Clin Electrophysiol 2024 Feb;10(2):346-355. Epub 2023 Nov 22 doi: 10.1016/j.jacep.2023.10.015. PMID: 37999672Free PMC Article
Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P
Epilepsia 2022 Jun;63(6):1443-1474. Epub 2022 May 3 doi: 10.1111/epi.17240. PMID: 35503725
Moraska AF, Schmiege SJ, Mann JD, Butryn N, Krutsch JP
Am J Phys Med Rehabil 2017 Sep;96(9):639-645. doi: 10.1097/PHM.0000000000000728. PMID: 28248690Free PMC Article
Irani SR, Bien CG, Lang B
Curr Opin Neurol 2011 Apr;24(2):146-53. doi: 10.1097/WCO.0b013e3283446f05. PMID: 21358545
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266

Prognosis

Kirchhof P, Camm AJ, Goette A, Brandes A, Eckardt L, Elvan A, Fetsch T, van Gelder IC, Haase D, Haegeli LM, Hamann F, Heidbüchel H, Hindricks G, Kautzner J, Kuck KH, Mont L, Ng GA, Rekosz J, Schoen N, Schotten U, Suling A, Taggeselle J, Themistoclakis S, Vettorazzi E, Vardas P, Wegscheider K, Willems S, Crijns HJGM, Breithardt G; EAST-AFNET 4 Trial Investigators
N Engl J Med 2020 Oct 1;383(14):1305-1316. Epub 2020 Aug 29 doi: 10.1056/NEJMoa2019422. PMID: 32865375
Jankowich MD, Rounds SIS
Chest 2012 Jan;141(1):222-231. doi: 10.1378/chest.11-1062. PMID: 22215830Free PMC Article
Steinlein OK
Expert Rev Neurother 2009 Jun;9(6):825-33. doi: 10.1586/ern.09.49. PMID: 19496686
Engel J Jr
Curr Opin Neurol 1994 Apr;7(2):140-7. doi: 10.1097/00019052-199404000-00010. PMID: 8019659
Benson DF, Gardner H, Meadows JC
Neurology 1976 Feb;26(2):147-51. doi: 10.1212/wnl.26.2.147. PMID: 943070

Clinical prediction guides

Thompson AE, Thompson PD
Handb Clin Neurol 2023;196:443-455. doi: 10.1016/B978-0-323-98817-9.00008-9. PMID: 37620084
Ardila A
Appl Neuropsychol Adult 2019 Nov-Dec;26(6):591-597. Epub 2018 Sep 5 doi: 10.1080/23279095.2018.1463224. PMID: 30183352
Moraska AF, Schmiege SJ, Mann JD, Butryn N, Krutsch JP
Am J Phys Med Rehabil 2017 Sep;96(9):639-645. doi: 10.1097/PHM.0000000000000728. PMID: 28248690Free PMC Article
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811
Cottin V
Eur Respir Rev 2013 Jun 1;22(128):153-7. doi: 10.1183/09059180.00000813. PMID: 23728869Free PMC Article

Recent systematic reviews

Akkus S, Elkhooly M, Amatya S, Shrestha K, Sharma K, Kagzi Y, Khan E, Gupta R, Piquet AL, Jaiswal S, Wen S, Tapia M, Samant R, Sista SR, Sriwastava S
J Neurol Sci 2023 Nov 15;454:120830. Epub 2023 Oct 9 doi: 10.1016/j.jns.2023.120830. PMID: 37856996
Larivière S, Bernasconi A, Bernasconi N, Bernhardt BC
Epilepsia 2021 Jan;62(1):6-24. Epub 2020 Nov 25 doi: 10.1111/epi.16753. PMID: 33236784
Banc A, Stan C, Florian IS
Neurosurg Rev 2018 Apr;41(2):415-426. Epub 2016 Jul 28 doi: 10.1007/s10143-016-0772-1. PMID: 27465394
Fonseca LM, Yokomizo JE, Bottino CM, Fuentes D
Dement Geriatr Cogn Disord 2016;41(3-4):123-36. Epub 2016 Feb 19 doi: 10.1159/000442941. PMID: 26891227
Politis M, Loane C
Psychopathology 2012;45(6):337-43. Epub 2012 Jul 31 doi: 10.1159/000337748. PMID: 22854269

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