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Ballard syndrome

MedGen UID:
349443
Concept ID:
C1862163
Disease or Syndrome
Synonyms: Brachydactyly Ballard type; Brachydactyly types B and E combined; Pitt Williams brachydactyly
SNOMED CT: Ballard syndrome (722298001); Brachydactyly types B and E combined (722298001); Pitt Williams brachydactyly (722298001)
 
Monarch Initiative: MONDO:0007213
OMIM®: 112440
Orphanet: ORPHA93395

Definition

Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. [from SNOMEDCT_US]

Professional guidelines

PubMed

Slattery SM, Perez IA, Ceccherini I, Chen ML, Kurek KC, Yap KL, Keens TG, Khaytin I, Ballard HA, Sokol EA, Mittal A, Rand CM, Weese-Mayer DE
Clin Auton Res 2023 Jun;33(3):231-249. Epub 2022 Nov 20 doi: 10.1007/s10286-022-00908-8. PMID: 36403185
Gauthier S, Cummings J, Ballard C, Brodaty H, Grossberg G, Robert P, Lyketsos C
Int Psychogeriatr 2010 May;22(3):346-72. Epub 2010 Jan 25 doi: 10.1017/S1041610209991505. PMID: 20096151
McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VM, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M; Consortium on DLB
Neurology 2005 Dec 27;65(12):1863-72. Epub 2005 Oct 19 doi: 10.1212/01.wnl.0000187889.17253.b1. PMID: 16237129

Recent clinical studies

Etiology

Liew F, Efstathiou C, Fontanella S, Richardson M, Saunders R, Swieboda D, Sidhu JK, Ascough S, Moore SC, Mohamed N, Nunag J, King C, Leavy OC, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Harris VC, Houchen-Wolloff L, Greening NJ, Lone NI, Thorpe M, Thompson AAR, Rowland-Jones SL, Docherty AB, Chalmers JD, Ho LP, Horsley A, Raman B, Poinasamy K, Marks M, Kon OM, Howard LS, Wootton DG, Quint JK, de Silva TI, Ho A, Chiu C, Harrison EM, Greenhalf W, Baillie JK, Semple MG, Turtle L, Evans RA, Wain LV, Brightling C, Thwaites RS, Openshaw PJM; PHOSP-COVID collaborative group; ISARIC investigators
Nat Immunol 2024 Apr;25(4):607-621. Epub 2024 Apr 8 doi: 10.1038/s41590-024-01778-0. PMID: 38589621Free PMC Article
Ghilardi G, Chong EA, Svoboda J, Wohlfarth P, Nasta SD, Williamson S, Landsburg JD, Gerson JN, Barta SK, Pajarillo R, Myers J, Chen AI, Schachter L, Yelton R, Ballard HJ, Hodges Dwinal A, Gier S, Victoriano D, Weber E, Napier E, Garfall A, Porter DL, Jäger U, Maziarz RT, Ruella M, Schuster SJ
Ann Oncol 2022 Sep;33(9):916-928. Epub 2022 Jun 9 doi: 10.1016/j.annonc.2022.05.521. PMID: 35690221
PHOSP-COVID Collaborative Group
Lancet Respir Med 2022 Aug;10(8):761-775. Epub 2022 Apr 23 doi: 10.1016/S2213-2600(22)00127-8. PMID: 35472304Free PMC Article
Khan A, Kalaria RN, Corbett A, Ballard C
J Geriatr Psychiatry Neurol 2016 Sep;29(5):281-301. doi: 10.1177/0891988716654987. PMID: 27502303
Ballard C, Mobley W, Hardy J, Williams G, Corbett A
Lancet Neurol 2016 May;15(6):622-36. Epub 2016 Apr 11 doi: 10.1016/S1474-4422(16)00063-6. PMID: 27302127

Diagnosis

Bearer C, Abman SH, Agostoni C, Ballard P, Bliss J, de Boode WP, Canpolat FE, Chalak L, Cilio MR, Dammann O, Davis J, El-Metwally D, Ferriero D, Ford S, Fuentes-Afflick E, Gano D, Giussani D, Gonzalez F, Gunn A, Hogeveen M, Huang AY, Kaplan J, Klebanoff M, Lachman P, Mak R, Malhotra A, Miller S, Mitchell WB, Molloy E, Mulkey SB, Roland D, Sampath V, Sant'Anna G, Schaff P, Singer LT, Stroustrup A, Tingay D, Tiribelli C, Toldi G, Tryggestad J, Valente EM, Wilson-Costello D, Zupancic J
Pediatr Res 2024 Feb;95(3):582-584. Epub 2023 Nov 13 doi: 10.1038/s41390-023-02885-8. PMID: 37957241
Vargas S, Calvo G, Qquellon J, Vasquez F, Blondeel K, Ballard R, Toskin I
Clin Microbiol Infect 2022 Jul;28(7):946-951. Epub 2021 Jun 10 doi: 10.1016/j.cmi.2021.05.052. PMID: 34118424
Khan A, Kalaria RN, Corbett A, Ballard C
J Geriatr Psychiatry Neurol 2016 Sep;29(5):281-301. doi: 10.1177/0891988716654987. PMID: 27502303
Ballard C, Mobley W, Hardy J, Williams G, Corbett A
Lancet Neurol 2016 May;15(6):622-36. Epub 2016 Apr 11 doi: 10.1016/S1474-4422(16)00063-6. PMID: 27302127
McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VM, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M; Consortium on DLB
Neurology 2005 Dec 27;65(12):1863-72. Epub 2005 Oct 19 doi: 10.1212/01.wnl.0000187889.17253.b1. PMID: 16237129

Therapy

Mosley PE, Webb L, Suraev A, Hingston L, Turnbull T, Foster K, Ballard E, Gomes L, Mohan A, Sachdev PS, Kevin R, Gordon R, Benson M, McGregor IS
NEJM Evid 2023 Sep;2(9):EVIDoa2300012. Epub 2023 Jun 7 doi: 10.1056/EVIDoa2300012. PMID: 38320199
Ghilardi G, Chong EA, Svoboda J, Wohlfarth P, Nasta SD, Williamson S, Landsburg JD, Gerson JN, Barta SK, Pajarillo R, Myers J, Chen AI, Schachter L, Yelton R, Ballard HJ, Hodges Dwinal A, Gier S, Victoriano D, Weber E, Napier E, Garfall A, Porter DL, Jäger U, Maziarz RT, Ruella M, Schuster SJ
Ann Oncol 2022 Sep;33(9):916-928. Epub 2022 Jun 9 doi: 10.1016/j.annonc.2022.05.521. PMID: 35690221
Ballard HA, Leavitt OS, Chin AC, Kabre R, Weese-Mayer DE, Hajduk J, Jagannathan N
Paediatr Anaesth 2018 Nov;28(11):963-973. Epub 2018 Sep 24 doi: 10.1111/pan.13475. PMID: 30251310
Gauthier S, Cummings J, Ballard C, Brodaty H, Grossberg G, Robert P, Lyketsos C
Int Psychogeriatr 2010 May;22(3):346-72. Epub 2010 Jan 25 doi: 10.1017/S1041610209991505. PMID: 20096151
Probert C, Ehmann WC, al-Mondhiry H, Ballard J, Helm KF
Int J Dermatol 1998 Feb;37(2):108-12. doi: 10.1046/j.1365-4362.1998.00270.x. PMID: 9542664

Prognosis

Wolfova K, Creese B, Aarsland D, Ismail Z, Corbett A, Ballard C, Hampshire A, Cermakova P
J Alzheimers Dis 2022;88(1):345-355. doi: 10.3233/JAD-220040. PMID: 35599483
Dunne RA, Aarsland D, O'Brien JT, Ballard C, Banerjee S, Fox NC, Isaacs JD, Underwood BR, Perry RJ, Chan D, Dening T, Thomas AJ, Schryer J, Jones AM, Evans AR, Alessi C, Coulthard EJ, Pickett J, Elton P, Jones RW, Mitchell S, Hooper N, Kalafatis C, Rasmussen JGC, Martin H, Schott JM, Burns A
Age Ageing 2021 Jan 8;50(1):72-80. doi: 10.1093/ageing/afaa228. PMID: 33197937Free PMC Article
Poh MM, Ballard TN, Wendel JJ
Ann Plast Surg 2010 Jun;64(6):803-6. doi: 10.1097/sap.0b013e3181b025f6. PMID: 20506580
Deiparine MK, Ballard JL, Taylor FC, Chase DR
J Vasc Surg 1996 Mar;23(3):529-33. doi: 10.1016/s0741-5214(96)80022-x. PMID: 8601899
Tsang RC, Ballard J, Braun C
Clin Obstet Gynecol 1981 Mar;24(1):125-47. doi: 10.1097/00003081-198103000-00012. PMID: 7011629

Clinical prediction guides

Mosley PE, Webb L, Suraev A, Hingston L, Turnbull T, Foster K, Ballard E, Gomes L, Mohan A, Sachdev PS, Kevin R, Gordon R, Benson M, McGregor IS
NEJM Evid 2023 Sep;2(9):EVIDoa2300012. Epub 2023 Jun 7 doi: 10.1056/EVIDoa2300012. PMID: 38320199
Ghilardi G, Chong EA, Svoboda J, Wohlfarth P, Nasta SD, Williamson S, Landsburg JD, Gerson JN, Barta SK, Pajarillo R, Myers J, Chen AI, Schachter L, Yelton R, Ballard HJ, Hodges Dwinal A, Gier S, Victoriano D, Weber E, Napier E, Garfall A, Porter DL, Jäger U, Maziarz RT, Ruella M, Schuster SJ
Ann Oncol 2022 Sep;33(9):916-928. Epub 2022 Jun 9 doi: 10.1016/j.annonc.2022.05.521. PMID: 35690221
Nasta SD, Hughes ME, Namoglu EC, Garfall A, DiFilippo H, Ballard HJ, Barta SK, Chong EA, Frey NV, Gerson JN, Landsburg DJ, Ruella M, Schuster SJ, Svoboda J, Weber E, Porter DL
Clin Lymphoma Myeloma Leuk 2022 Aug;22(8):e730-e737. Epub 2022 Apr 20 doi: 10.1016/j.clml.2022.04.012. PMID: 35595619Free PMC Article
PHOSP-COVID Collaborative Group
Lancet Respir Med 2022 Aug;10(8):761-775. Epub 2022 Apr 23 doi: 10.1016/S2213-2600(22)00127-8. PMID: 35472304Free PMC Article
Leyton CE, Hodges JR, McLean CA, Kril JJ, Piguet O, Ballard KJ
Cortex 2015 Jun;67:122-33. Epub 2015 Apr 1 doi: 10.1016/j.cortex.2015.03.011. PMID: 25955499

Recent systematic reviews

Slattery SM, Perez IA, Ceccherini I, Chen ML, Kurek KC, Yap KL, Keens TG, Khaytin I, Ballard HA, Sokol EA, Mittal A, Rand CM, Weese-Mayer DE
Clin Auton Res 2023 Jun;33(3):231-249. Epub 2022 Nov 20 doi: 10.1007/s10286-022-00908-8. PMID: 36403185
Shawer S, Khunda A, Waring GJ, Ballard P
Int Urogynecol J 2022 Feb;33(2):235-243. Epub 2022 Jan 13 doi: 10.1007/s00192-021-05072-7. PMID: 35024885
Kurz MW, Schlitter AM, Larsen JP, Ballard C, Aarsland D
Dement Geriatr Cogn Disord 2006;22(4):288-95. Epub 2006 Aug 17 doi: 10.1159/000095159. PMID: 16921239

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