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Multiple congenital anomalies/dysmorphic syndrome

MedGen UID:
1843247
•Concept ID:
C5681310
•
Disease or Syndrome
Synonyms: MCAHS; multiple congenital anomalies/dysmorphic syndrome
 
Monarch Initiative: MONDO:0019042
Orphanet: ORPHA68341

Professional guidelines

PubMed

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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

PHACE syndrome: A review.
Keith L
Semin Pediatr Neurol 2024 Oct;51:101152. Epub 2024 Sep 11 doi: 10.1016/j.spen.2024.101152. PMID: 39389654
Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study.
Heiskanen S, Syvänen J, Helenius I, Kemppainen T, Löyttyniemi E, Gissler M, Raitio A
J Pediatr Orthop 2022 May-Jun 01;42(5):e538-e543. doi: 10.1097/BPO.0000000000002124. PMID: 35297389Free PMC Article
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V
Pediatr Dermatol 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. PMID: 15165194

Diagnosis

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA
Rofo 2018 Sep;190(9):825-835. Epub 2018 Jun 6 doi: 10.1055/a-0620-8925. PMID: 29874693
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Mowat-Wilson syndrome.
Mowat DR, Wilson MJ, Goossens M
J Med Genet 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. PMID: 12746390Free PMC Article

Therapy

Maternal Risk Factors for Congenital Vertebral Anomalies: A Population-Based Study.
Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Prognosis

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T
J Clin Endocrinol Metab 2020 Jan 1;105(1) doi: 10.1210/clinem/dgz034. PMID: 31544945
CLOVES syndrome.
Bloom J, Upton J 3rd
J Hand Surg Am 2013 Dec;38(12):2508-12. Epub 2013 Oct 23 doi: 10.1016/j.jhsa.2013.08.120. PMID: 24161472
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Clinical prediction guides

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO
Clin Genet 2024 Jun;105(6):596-610. Epub 2024 Jan 26 doi: 10.1111/cge.14490. PMID: 38278647
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T
J Clin Endocrinol Metab 2020 Jan 1;105(1) doi: 10.1210/clinem/dgz034. PMID: 31544945
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Neuromuscular exercise in children with Down Syndrome: a systematic review.
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Treatment of keratosis pilaris and its variants: a systematic review.
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876

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