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Smith-Lemli-Opitz syndrome type 2

MedGen UID:
129210
•Concept ID:
C0282644
•
Disease or Syndrome
Synonyms: SLO syndrome type 2; Smith Lemli Optiz syndrome type 2; Smith-Lemli-Opitz Syndrome, Type II

Professional guidelines

PubMed

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.
Jezela-Stanek A, Siejka A, Kowalska EM, Hosiawa V, Krajewska-Walasek M
Ginekol Pol 2020;91(5):287-293. doi: 10.5603/GP.2020.0049. PMID: 32495936
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):285-94. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31347. PMID: 23042642Free PMC Article
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Porter FD
Eur J Hum Genet 2008 May;16(5):535-41. Epub 2008 Feb 20 doi: 10.1038/ejhg.2008.10. PMID: 18285838

Recent clinical studies

Etiology

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR, Hennekam RC
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):263-84. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31346. PMID: 23042628
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD
Expert Rev Mol Med 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. PMID: 21777499Free PMC Article
DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ, Nakamura LM, Waye JS
Clin Invest Med 2001 Dec;24(6):311-7. PMID: 11767235
The Smith-Lemli-Opitz syndrome.
Kelley RI, Hennekam RC
J Med Genet 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321. PMID: 10807690Free PMC Article

Diagnosis

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC
Am J Med Genet A 2021 Apr;185(4):1131-1141. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62087. PMID: 33529473Free PMC Article
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):250-62. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31343. PMID: 23059950
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR, Hennekam RC
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):263-84. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31346. PMID: 23042628
The Smith-Lemli-Opitz syndrome.
Kelley RI, Hennekam RC
J Med Genet 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321. PMID: 10807690Free PMC Article

Therapy

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Schaefer EJ, Tint GS, Duell PB, Steiner RD
J Clin Lipidol 2021 Jul-Aug;15(4):540-544. Epub 2021 May 28 doi: 10.1016/j.jacl.2021.05.004. PMID: 34140251
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):285-94. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31347. PMID: 23042642Free PMC Article
School in photodermatology: Smith-Lemli-Opitz syndrome.
Anstey A
Photodermatol Photoimmunol Photomed 2006 Aug;22(4):200-4. doi: 10.1111/j.1600-0781.2006.00231.x. PMID: 16869869
Smith-Lemli-Opitz syndrome.
Sinclair L, Winterborn MH, Brown J
Proc R Soc Med 1969 Sep;62(9):907-8. PMID: 5349196Free PMC Article

Prognosis

Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue SE, Pitt JJ, Boneh A, White SM
J Pediatr Endocrinol Metab 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501. PMID: 29455191
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD
Am J Med Genet A 2017 Oct;173(10):2577-2583. Epub 2017 Aug 10 doi: 10.1002/ajmg.a.38361. PMID: 28796426Free PMC Article
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Lazarin GA, Haque IS, Evans EA, Goldberg JD
Prenat Diagn 2017 Apr;37(4):350-355. Epub 2017 Mar 9 doi: 10.1002/pd.5018. PMID: 28166604Free PMC Article
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
Nowaczyk MJ, Waye JS
Clin Genet 2001 Jun;59(6):375-86. doi: 10.1034/j.1399-0004.2001.590601.x. PMID: 11453964

Clinical prediction guides

Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP
Adv Exp Med Biol 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. PMID: 38884726
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.
Tomita H, Hines KM, Herron JM, Li A, Baggett DW, Xu L
Elife 2022 Sep 16;11 doi: 10.7554/eLife.67141. PMID: 36111785Free PMC Article
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC
Am J Med Genet A 2021 Apr;185(4):1131-1141. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62087. PMID: 33529473Free PMC Article
The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.
Opitz JM, Furtado LV
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):242-9. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31341. PMID: 23059855
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
Nowaczyk MJ, Waye JS, Douketis JD
Am J Med Genet A 2006 Oct 1;140(19):2057-62. doi: 10.1002/ajmg.a.31413. PMID: 16906538

Recent systematic reviews

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569Free PMC Article
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J 2016 Oct;16(5):411-29. Epub 2016 Jul 12 doi: 10.1038/tpj.2016.48. PMID: 27401223Free PMC Article

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