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  • Wrong UID 1054306

Vertebral, cardiac, renal, and limb defects syndrome 2(VCRL2)

MedGen UID:
1624065
Concept ID:
C4540014
Disease or Syndrome
Synonyms: CONGENITAL NAD DEFICIENCY DISORDER 2; KYNURENINASE DEFICIENCY, COMPLETE
 
KYNU (2q22.2)
 
Monarch Initiative: MONDO:0060555
OMIM®: 617661

Definition

Vertebral, cardiac, renal, and limb defects syndrome-2 (VCRL2) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). [from OMIM]

Clinical features

From HPO

Recent clinical studies

Etiology

Lim JX, Fong E, Goh C, Ng LP, Merchant K, Low DCY, Seow WT, Low SYY
J Neurosurg Pediatr 2023 Mar 1;31(3):197-205. Epub 2022 Dec 2 doi: 10.3171/2022.8.PEDS22103. PMID: 36461829
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Forman M, Canizares MF, Bohn D, James MA, Samora J, Steinman S, Wall LB, Bauer AS; CoULD Study Group
J Bone Joint Surg Am 2020 Oct 21;102(20):1815-1822. doi: 10.2106/JBJS.20.00281. PMID: 33086350
van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N
Birth Defects Res 2020 May 15;112(9):688-698. Epub 2020 Apr 22 doi: 10.1002/bdr2.1686. PMID: 32319733Free PMC Article
Halverson SJ, Takayama S, Ochi K, Seki A, Wall LB, Goldfarb CA
J Hand Surg Am 2020 Mar;45(3):196-202.e2. Epub 2020 Jan 17 doi: 10.1016/j.jhsa.2019.12.004. PMID: 31959377

Diagnosis

Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Stoll C, Dott B, Alembik Y, Roth MP
Am J Med Genet A 2018 Dec;176(12):2646-2660. Epub 2018 Dec 12 doi: 10.1002/ajmg.a.40530. PMID: 30548801
Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N
Semin Musculoskelet Radiol 2012 Apr;16(2):146-58. Epub 2012 May 30 doi: 10.1055/s-0032-1311766. PMID: 22648430
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D
Orphanet J Rare Dis 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13. PMID: 17359527Free PMC Article

Therapy

Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A
Eur J Hum Genet 2014 Sep;22(9):1077-84. Epub 2014 Jan 8 doi: 10.1038/ejhg.2013.295. PMID: 24398799Free PMC Article
Wijers CH, van Rooij IA, Bakker MK, Marcelis CL, Addor MC, Barisic I, Béres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos-Bielenska A, Dias CM, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HE
BJOG 2013 Aug;120(9):1066-74. Epub 2013 Apr 10 doi: 10.1111/1471-0528.12235. PMID: 23574029
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H
Eur J Med Genet 2011 Jan-Feb;54(1):9-13. Epub 2010 Sep 16 doi: 10.1016/j.ejmg.2010.09.001. PMID: 20849991
Lammer EJ, Cordero JF, Khoury MJ
Teratology 1986 Oct;34(2):165-9. doi: 10.1002/tera.1420340205. PMID: 3775669

Prognosis

Esposito G, Totonelli G, Iacobelli BD, Longo D, Caldaro T, Blasetti G, Bevilacqua F, Santato F, Lucignani G, Sollini ML, Marras CE, Bagolan P, Mosiello G
Pediatr Surg Int 2022 Oct;38(10):1461-1472. Epub 2022 Aug 9 doi: 10.1007/s00383-022-05168-1. PMID: 35943565
Amelot A, Cretolle C, de Saint Denis T, Sarnacki S, Catala M, Zerah M
Eur J Pediatr 2020 Jul;179(7):1121-1129. Epub 2020 Feb 13 doi: 10.1007/s00431-020-03609-4. PMID: 32055959
Salinas-Torres VM, Rivera H
Genet Couns 2014;25(1):29-33. PMID: 24783652
Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N
Semin Musculoskelet Radiol 2012 Apr;16(2):146-58. Epub 2012 May 30 doi: 10.1055/s-0032-1311766. PMID: 22648430
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Lim JX, Fong E, Goh C, Ng LP, Merchant K, Low DCY, Seow WT, Low SYY
J Neurosurg Pediatr 2023 Mar 1;31(3):197-205. Epub 2022 Dec 2 doi: 10.3171/2022.8.PEDS22103. PMID: 36461829
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Esposito G, Totonelli G, Iacobelli BD, Longo D, Caldaro T, Blasetti G, Bevilacqua F, Santato F, Lucignani G, Sollini ML, Marras CE, Bagolan P, Mosiello G
Pediatr Surg Int 2022 Oct;38(10):1461-1472. Epub 2022 Aug 9 doi: 10.1007/s00383-022-05168-1. PMID: 35943565
Slagle CL, Schulz EV, Annibale DJ
Neonatal Netw 2019 Mar 1;38(2):98-106. Epub 2019 Mar 6 doi: 10.1891/0730-0832.38.2.98. PMID: 31470372
McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST
Am J Med Genet A 2011 Oct;155A(10):2370-80. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.33913. PMID: 21910217

Supplemental Content

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