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Congenital or early infantile CACH syndrome

MedGen UID:
1842419
Concept ID:
C5680650
Disease or Syndrome
Synonym: congenital or early infantile CACH syndrome
 
Monarch Initiative: MONDO:0015519
Orphanet: ORPHA157713

Professional guidelines

PubMed

Kaplan SL, Coulter C, Sargent B
Pediatr Phys Ther 2018 Oct;30(4):240-290. doi: 10.1097/PEP.0000000000000544. PMID: 30277962Free PMC Article
Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, Daly K, Doutré S, Gibson L, Giles ML, Greenlee J, Hamilton ST, Harrison GJ, Hui L, Jones CA, Palasanthiran P, Schleiss MR, Shand AW, van Zuylen WJ
Lancet Infect Dis 2017 Jun;17(6):e177-e188. Epub 2017 Mar 11 doi: 10.1016/S1473-3099(17)30143-3. PMID: 28291720
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Leung AK, Sauve RS, Davies HD
J Natl Med Assoc 2003 Mar;95(3):213-8. PMID: 12749681Free PMC Article
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329
Brown HL, Abernathy MP
Semin Perinatol 1998 Aug;22(4):260-6. doi: 10.1016/s0146-0005(98)80014-1. PMID: 9738990
Strauss M
Am J Otolaryngol 1990 Sep-Oct;11(5):292-8. doi: 10.1016/0196-0709(90)90057-3. PMID: 2176062

Diagnosis

Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Robaina-Castellanos GR, Riesgo-Rodríguez SC
MEDICC Rev 2021 Jan;23(1):72-83. Epub 2021 Jan 30 doi: 10.37757/MR2021.V23.N1.13. PMID: 33780426
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
Banatvala JE, Brown DW
Lancet 2004 Apr 3;363(9415):1127-37. doi: 10.1016/S0140-6736(04)15897-2. PMID: 15064032
Leung AK, Sauve RS, Davies HD
J Natl Med Assoc 2003 Mar;95(3):213-8. PMID: 12749681Free PMC Article

Therapy

Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Simões EAF, Madhi SA, Muller WJ, Atanasova V, Bosheva M, Cabañas F, Baca Cots M, Domachowske JB, Garcia-Garcia ML, Grantina I, Nguyen KA, Zar HJ, Berglind A, Cummings C, Griffin MP, Takas T, Yuan Y, Wählby Hamrén U, Leach A, Villafana T
Lancet Child Adolesc Health 2023 Mar;7(3):180-189. Epub 2023 Jan 9 doi: 10.1016/S2352-4642(22)00321-2. PMID: 36634694Free PMC Article
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K
Am J Obstet Gynecol 2022 Mar;226(3):366-378. Epub 2022 Jan 10 doi: 10.1016/j.ajog.2021.11.1357. PMID: 35026129Free PMC Article
De-Regil LM, Peña-Rosas JP, Fernández-Gaxiola AC, Rayco-Solon P
Cochrane Database Syst Rev 2015 Dec 14;2015(12):CD007950. doi: 10.1002/14651858.CD007950.pub3. PMID: 26662928Free PMC Article

Prognosis

Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Swanson JR, Sinkin RA
Clin Perinatol 2013 Dec;40(4):629-44. Epub 2013 Sep 20 doi: 10.1016/j.clp.2013.07.009. PMID: 24182952
Nissen MD
Paediatr Respir Rev 2007 Sep;8(3):195-203. Epub 2007 Sep 6 doi: 10.1016/j.prrv.2007.07.001. PMID: 17868917
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Clinical prediction guides

Donnan M, Anderson N, Hoq M, Donnan L
Bone Joint J 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. PMID: 37777201
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M
J Neurosci Res 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. PMID: 27638592Free PMC Article
Wrightson AS
Am Fam Physician 2007 May 1;75(9):1349-52. PMID: 17508530

Recent systematic reviews

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230Free PMC Article
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW
J Am Coll Cardiol 2011 Nov 15;58(21):2241-7. doi: 10.1016/j.jacc.2011.08.025. PMID: 22078432

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