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Spina bifida-hypospadias syndrome

MedGen UID:
1638294
Concept ID:
C4706660
Disease or Syndrome
Synonyms: Spina bifida and hypospadias syndrome; spina bifida-hypospadias syndrome
SNOMED CT: Spina bifida and hypospadias syndrome (763889002)
 
Monarch Initiative: MONDO:0017857
Orphanet: ORPHA3176

Definition

A rare developmental defect during embryogenesis with the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet and hypertrichosis. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpina bifida-hypospadias syndrome

Professional guidelines

PubMed

Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Bonicolini E, Martucci G, Simons J, Raffa GM, Spina C, Lo Coco V, Arcadipane A, Pilato M, Lorusso R
Crit Care 2019 Jul 30;23(1):266. doi: 10.1186/s13054-019-2541-3. PMID: 31362770Free PMC Article
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Recent clinical studies

Etiology

Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators
Lancet Neurol 2021 Sep;20(9):739-752. doi: 10.1016/S1474-4422(21)00214-3. PMID: 34418401Free PMC Article
Kiani AK, Paolacci S, Calogero AE, Cannarella R, Di Renzo GC, Gerli S, Della Morte C, Busetto GM, De Berardinis E, Del Giudice F, Stuppia L, Facchinetti F, Dinicola S, Bertelli M
Eur Rev Med Pharmacol Sci 2021 Mar;25(5):2390-2402. doi: 10.26355/eurrev_202103_25279. PMID: 33755975
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Diagnosis

Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article
Bang J, Spina S, Miller BL
Lancet 2015 Oct 24;386(10004):1672-82. doi: 10.1016/S0140-6736(15)00461-4. PMID: 26595641Free PMC Article
Muhle R, Trentacoste SV, Rapin I
Pediatrics 2004 May;113(5):e472-86. doi: 10.1542/peds.113.5.e472. PMID: 15121991

Therapy

Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Voysey M, Clemens SAC, Madhi SA, Weckx LY, Folegatti PM, Aley PK, Angus B, Baillie VL, Barnabas SL, Bhorat QE, Bibi S, Briner C, Cicconi P, Collins AM, Colin-Jones R, Cutland CL, Darton TC, Dheda K, Duncan CJA, Emary KRW, Ewer KJ, Fairlie L, Faust SN, Feng S, Ferreira DM, Finn A, Goodman AL, Green CM, Green CA, Heath PT, Hill C, Hill H, Hirsch I, Hodgson SHC, Izu A, Jackson S, Jenkin D, Joe CCD, Kerridge S, Koen A, Kwatra G, Lazarus R, Lawrie AM, Lelliott A, Libri V, Lillie PJ, Mallory R, Mendes AVA, Milan EP, Minassian AM, McGregor A, Morrison H, Mujadidi YF, Nana A, O'Reilly PJ, Padayachee SD, Pittella A, Plested E, Pollock KM, Ramasamy MN, Rhead S, Schwarzbold AV, Singh N, Smith A, Song R, Snape MD, Sprinz E, Sutherland RK, Tarrant R, Thomson EC, Török ME, Toshner M, Turner DPJ, Vekemans J, Villafana TL, Watson MEE, Williams CJ, Douglas AD, Hill AVS, Lambe T, Gilbert SC, Pollard AJ; Oxford COVID Vaccine Trial Group
Lancet 2021 Jan 9;397(10269):99-111. Epub 2020 Dec 8 doi: 10.1016/S0140-6736(20)32661-1. PMID: 33306989Free PMC Article
Dewan MC, Wellons JC
J Neurosurg Pediatr 2019 Aug 1;24(2):105-114. doi: 10.3171/2019.4.PEDS18383. PMID: 31370010
Bonicolini E, Martucci G, Simons J, Raffa GM, Spina C, Lo Coco V, Arcadipane A, Pilato M, Lorusso R
Crit Care 2019 Jul 30;23(1):266. doi: 10.1186/s13054-019-2541-3. PMID: 31362770Free PMC Article
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Prognosis

Morota N, Sakamoto H
Childs Nerv Syst 2023 Oct;39(10):2847-2864. Epub 2023 Jul 8 doi: 10.1007/s00381-023-06024-w. PMID: 37421423
Lu VM, Niazi TN
Pediatr Rev 2021 Sep;42(9):486-499. doi: 10.1542/pir.2020-000661. PMID: 34470868
Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators
Lancet Neurol 2021 Sep;20(9):739-752. doi: 10.1016/S1474-4422(21)00214-3. PMID: 34418401Free PMC Article
Naasan G, Shdo SM, Rodriguez EM, Spina S, Grinberg L, Lopez L, Karydas A, Seeley WW, Miller BL, Rankin KP
Brain 2021 Apr 12;144(3):999-1012. doi: 10.1093/brain/awaa413. PMID: 33501939Free PMC Article
Bonicolini E, Martucci G, Simons J, Raffa GM, Spina C, Lo Coco V, Arcadipane A, Pilato M, Lorusso R
Crit Care 2019 Jul 30;23(1):266. doi: 10.1186/s13054-019-2541-3. PMID: 31362770Free PMC Article

Clinical prediction guides

Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators
Lancet Neurol 2021 Sep;20(9):739-752. doi: 10.1016/S1474-4422(21)00214-3. PMID: 34418401Free PMC Article
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Kiani AK, Paolacci S, Calogero AE, Cannarella R, Di Renzo GC, Gerli S, Della Morte C, Busetto GM, De Berardinis E, Del Giudice F, Stuppia L, Facchinetti F, Dinicola S, Bertelli M
Eur Rev Med Pharmacol Sci 2021 Mar;25(5):2390-2402. doi: 10.26355/eurrev_202103_25279. PMID: 33755975
Naasan G, Shdo SM, Rodriguez EM, Spina S, Grinberg L, Lopez L, Karydas A, Seeley WW, Miller BL, Rankin KP
Brain 2021 Apr 12;144(3):999-1012. doi: 10.1093/brain/awaa413. PMID: 33501939Free PMC Article
Dewan MC, Wellons JC
J Neurosurg Pediatr 2019 Aug 1;24(2):105-114. doi: 10.3171/2019.4.PEDS18383. PMID: 31370010

Recent systematic reviews

Wilpers A, Lynn AY, Eichhorn B, Powne AB, Lagueux M, Batten J, Bahtiyar MO, Gross CP
Fetal Diagn Ther 2022;49(3):125-137. Epub 2022 Mar 10 doi: 10.1159/000523867. PMID: 35272297Free PMC Article
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
Ho P, Quigley MA, Tatwavedi D, Britto C, Kurinczuk JJ
PLoS One 2021;16(5):e0250098. Epub 2021 May 12 doi: 10.1371/journal.pone.0250098. PMID: 33979363Free PMC Article
Yaltırık K, El Tecle NE, Pierson MJ, Puryear A, Atalay B, Elbabaa SK
Childs Nerv Syst 2017 Nov;33(11):1899-1903. Epub 2017 Jul 10 doi: 10.1007/s00381-017-3504-0. PMID: 28695338
Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2017 Oct;46(10):1319-1329. Epub 2017 Jun 29 doi: 10.1016/j.ijom.2017.04.025. PMID: 28669484

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