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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
Polydactyly of a biphalangeal thumb
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Preaxial foot polydactyly
MedGen UID:
389171
•Concept ID:
C2112942
•
Finding
Duplication of all or part of the first ray.
See: Feature record | Search on this feature
Bifid distal phalanx of toe
MedGen UID:
867402
•Concept ID:
C4021772
•
Anatomical Abnormality
See: Feature record | Search on this feature
1-2 toe complete cutaneous syndactyly
MedGen UID:
870686
•Concept ID:
C4025140
•
Anatomical Abnormality
See: Feature record | Search on this feature
Abnormal earlobe morphology
MedGen UID:
867434
•Concept ID:
C4021808
•
Anatomical Abnormality
An abnormality of the lobule of pinna.
See: Feature record | Search on this feature
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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

New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development.
Perucca E, White HS, Bialer M
CNS Drugs 2023 Sep;37(9):781-795. Epub 2023 Aug 21 doi: 10.1007/s40263-023-01025-4. PMID: 37603261Free PMC Article
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.
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
Emergency Evaluation and Management of Encephalitis and Myelitis in Adults.
Bradshaw MJ, Venkatesan A
Semin Neurol 2019 Feb;39(1):82-101. Epub 2019 Feb 11 doi: 10.1055/s-0038-1676845. PMID: 30743295

Recent clinical studies

Etiology

Advanced neuroimaging techniques in epilepsy.
Duncan JS, Trimmel K
Curr Opin Neurol 2022 Apr 1;35(2):189-195. doi: 10.1097/WCO.0000000000001007. PMID: 34812749
Responsiveness of Myofascial Trigger Points to Single and Multiple Trigger Point Release Massages: A Randomized, Placebo Controlled Trial.
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
Paraneoplastic epilepsy.
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
Review: Hippocampal sclerosis in epilepsy: a neuropathology review.
Thom M
Neuropathol Appl Neurobiol 2014 Aug;40(5):520-43. doi: 10.1111/nan.12150. PMID: 24762203Free PMC Article
Epilepsy.
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266

Diagnosis

Frontal lobe motor syndromes.
Thompson AE, Thompson PD
Handb Clin Neurol 2023;196:443-455. doi: 10.1016/B978-0-323-98817-9.00008-9. PMID: 37620084
Epilepsy-aphasia syndromes.
Steinlein OK
Expert Rev Neurother 2009 Jun;9(6):825-33. doi: 10.1586/ern.09.49. PMID: 19496686
Posterior leukoencephalopathy syndrome.
Garg RK
Postgrad Med J 2001 Jan;77(903):24-8. doi: 10.1136/pmj.77.903.24. PMID: 11123390Free PMC Article
The cerebellar cognitive affective syndrome.
Schmahmann JD, Sherman JC
Brain 1998 Apr;121 ( Pt 4):561-79. doi: 10.1093/brain/121.4.561. PMID: 9577385
The Lennox-Gastaut syndrome.
Dulac O, N'Guyen T
Epilepsia 1993;34 Suppl 7:S7-17. doi: 10.1111/j.1528-1157.1993.tb04593.x. PMID: 8243377

Therapy

New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development.
Perucca E, White HS, Bialer M
CNS Drugs 2023 Sep;37(9):781-795. Epub 2023 Aug 21 doi: 10.1007/s40263-023-01025-4. PMID: 37603261Free PMC Article
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.
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
Responsiveness of Myofascial Trigger Points to Single and Multiple Trigger Point Release Massages: A Randomized, Placebo Controlled Trial.
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
Autoimmune epilepsies.
Irani SR, Bien CG, Lang B
Curr Opin Neurol 2011 Apr;24(2):146-53. doi: 10.1097/WCO.0b013e3283446f05. PMID: 21358545
Epilepsy.
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266

Prognosis

Early Rhythm-Control Therapy in Patients with Atrial Fibrillation.
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
Epilepsy-aphasia syndromes.
Steinlein OK
Expert Rev Neurother 2009 Jun;9(6):825-33. doi: 10.1586/ern.09.49. PMID: 19496686
Neuro-Behçet's disease.
Hadfield MG, Aydin F, Lippman HR, Sanders KM
Clin Neuropathol 1997 Mar-Apr;16(2):55-60. PMID: 9101104
Epilepsy surgery.
Engel J Jr
Curr Opin Neurol 1994 Apr;7(2):140-7. doi: 10.1097/00019052-199404000-00010. PMID: 8019659
Reduplicative paramnesia.
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

Frontal lobe motor syndromes.
Thompson AE, Thompson PD
Handb Clin Neurol 2023;196:443-455. doi: 10.1016/B978-0-323-98817-9.00008-9. PMID: 37620084
Responsiveness of Myofascial Trigger Points to Single and Multiple Trigger Point Release Massages: A Randomized, Placebo Controlled Trial.
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
Sleep and epilepsy syndromes.
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811
Epilepsy and the hippocampus.
Chatzikonstantinou A
Front Neurol Neurosci 2014;34:121-42. Epub 2014 Apr 16 doi: 10.1159/000356435. PMID: 24777136
Boundaries of schizophrenia.
Adler CM, Strakowski SM
Psychiatr Clin North Am 2003 Mar;26(1):1-23. doi: 10.1016/s0193-953x(02)00085-0. PMID: 12683257

Recent systematic reviews

Autoimmune and paraneoplastic neurological disorders: A review of relevant neuroimaging findings.
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
Connectome biomarkers of drug-resistant epilepsy.
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
Optical coherence tomography impacts the evaluation of visual pathway tumors.
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
Frontal Lobe Degeneration in Adults with Down Syndrome and Alzheimer's Disease: A Review.
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
Reduplicative paramnesia: a review.
Politis M, Loane C
Psychopathology 2012;45(6):337-43. Epub 2012 Jul 31 doi: 10.1159/000337748. PMID: 22854269

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