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Fraser syndrome 2(FRASRS2)

MedGen UID:
1624349
•Concept ID:
C4540036
•
Disease or Syndrome
Synonyms: FRASRS2; FREM2-Related Fraser Syndrome
 
Gene (location): FREM2 (13q13.3)
 
Monarch Initiative: MONDO:0054738
OMIM®: 617666

Definition

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000. [from OMIM]

Clinical features

From HPO
Renal hypoplasia
MedGen UID:
120571
•Concept ID:
C0266295
•
Congenital Abnormality
Hypoplasia of the kidney.
See: Feature record | Search on this feature
Ambiguous genitalia
MedGen UID:
78596
•Concept ID:
C0266362
•
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
See: Feature record | Search on this feature
Renal agenesis
MedGen UID:
154237
•Concept ID:
C0542519
•
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
See: Feature record | Search on this feature
Aplasia of the bladder
MedGen UID:
869385
•Concept ID:
C4023812
•
Finding
Aplasia (absence) of the urinary bladder.
See: Feature record | Search on this feature
Cutaneous syndactyly
MedGen UID:
396250
•Concept ID:
C1861921
•
Congenital Abnormality
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
See: Feature record | Search on this feature
Abdominal distention
MedGen UID:
34
•Concept ID:
C0000731
•
Finding
Distention of the abdomen.
See: Feature record | Search on this feature
Short thorax
MedGen UID:
140876
•Concept ID:
C0426789
•
Finding
Reduced inferior to superior extent of the thorax.
See: Feature record | Search on this feature
Narrow mouth
MedGen UID:
44435
•Concept ID:
C0026034
•
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
See: Feature record | Search on this feature
Cryptophthalmia
MedGen UID:
81386
•Concept ID:
C0311249
•
Congenital Abnormality
Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
See: Feature record | Search on this feature
Underdeveloped nasal alae
MedGen UID:
322332
•Concept ID:
C1834055
•
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical features and orbital anomalies in Fraser syndrome and a review of management options.
Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article
A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process.
Harwood R, Allin B, Jones CE, Whittaker E, Ramnarayan P, Ramanan AV, Kaleem M, Tulloh R, Peters MJ, Almond S, Davis PJ, Levin M, Tometzki A, Faust SN, Knight M, Kenny S; PIMS-TS National Consensus Management Study Group
Lancet Child Adolesc Health 2021 Feb;5(2):133-141. Epub 2020 Sep 18 doi: 10.1016/S2352-4642(20)30304-7. PMID: 32956615Free PMC Article
Ethnicity and Metabolic Syndrome: Implications for Assessment, Management and Prevention.
Lear SA, Gasevic D
Nutrients 2019 Dec 19;12(1) doi: 10.3390/nu12010015. PMID: 31861719Free PMC Article

Recent clinical studies

Etiology

Metformin: Is it a drug for all reasons and diseases?
Triggle CR, Mohammed I, Bshesh K, Marei I, Ye K, Ding H, MacDonald R, Hollenberg MD, Hill MA
Metabolism 2022 Aug;133:155223. Epub 2022 May 29 doi: 10.1016/j.metabol.2022.155223. PMID: 35640743
Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.
STARSurg Collaborative and COVIDSurg Collaborative
Br J Surg 2021 Dec 1;108(12):1448-1464. doi: 10.1093/bjs/znab336. PMID: 34871379Free PMC Article
COVID-19 and COPD.
Leung JM, Niikura M, Yang CWT, Sin DD
Eur Respir J 2020 Aug;56(2) Epub 2020 Aug 13 doi: 10.1183/13993003.02108-2020. PMID: 32817205Free PMC Article
Risks and Benefits of Chimeric Antigen Receptor T-Cell (CAR-T) Therapy in Cancer: A Systematic Review and Meta-Analysis.
Grigor EJM, Fergusson D, Kekre N, Montroy J, Atkins H, Seftel MD, Daugaard M, Presseau J, Thavorn K, Hutton B, Holt RA, Lalu MM
Transfus Med Rev 2019 Apr;33(2):98-110. Epub 2019 Feb 14 doi: 10.1016/j.tmrv.2019.01.005. PMID: 30948292
Prednisolone or pentoxifylline for alcoholic hepatitis.
Thursz MR, Richardson P, Allison M, Austin A, Bowers M, Day CP, Downs N, Gleeson D, MacGilchrist A, Grant A, Hood S, Masson S, McCune A, Mellor J, O'Grady J, Patch D, Ratcliffe I, Roderick P, Stanton L, Vergis N, Wright M, Ryder S, Forrest EH; STOPAH Trial
N Engl J Med 2015 Apr 23;372(17):1619-28. doi: 10.1056/NEJMoa1412278. PMID: 25901427

Diagnosis

Randomized Trial of Metformin, Ivermectin, and Fluvoxamine for Covid-19.
Bramante CT, Huling JD, Tignanelli CJ, Buse JB, Liebovitz DM, Nicklas JM, Cohen K, Puskarich MA, Belani HK, Proper JL, Siegel LK, Klatt NR, Odde DJ, Luke DG, Anderson B, Karger AB, Ingraham NE, Hartman KM, Rao V, Hagen AA, Patel B, Fenno SL, Avula N, Reddy NV, Erickson SM, Lindberg S, Fricton R, Lee S, Zaman A, Saveraid HG, Tordsen WJ, Pullen MF, Biros M, Sherwood NE, Thompson JL, Boulware DR, Murray TA; COVID-OUT Trial Team
N Engl J Med 2022 Aug 18;387(7):599-610. doi: 10.1056/NEJMoa2201662. PMID: 36070710Free PMC Article
Metformin: Is it a drug for all reasons and diseases?
Triggle CR, Mohammed I, Bshesh K, Marei I, Ye K, Ding H, MacDonald R, Hollenberg MD, Hill MA
Metabolism 2022 Aug;133:155223. Epub 2022 May 29 doi: 10.1016/j.metabol.2022.155223. PMID: 35640743
Mid and long-term neurological and neuropsychiatric manifestations of post-COVID-19 syndrome: A meta-analysis.
Premraj L, Kannapadi NV, Briggs J, Seal SM, Battaglini D, Fanning J, Suen J, Robba C, Fraser J, Cho SM
J Neurol Sci 2022 Mar 15;434:120162. Epub 2022 Jan 29 doi: 10.1016/j.jns.2022.120162. PMID: 35121209Free PMC Article
COVID-19 and COPD.
Leung JM, Niikura M, Yang CWT, Sin DD
Eur Respir J 2020 Aug;56(2) Epub 2020 Aug 13 doi: 10.1183/13993003.02108-2020. PMID: 32817205Free PMC Article
Prednisolone or pentoxifylline for alcoholic hepatitis.
Thursz MR, Richardson P, Allison M, Austin A, Bowers M, Day CP, Downs N, Gleeson D, MacGilchrist A, Grant A, Hood S, Masson S, McCune A, Mellor J, O'Grady J, Patch D, Ratcliffe I, Roderick P, Stanton L, Vergis N, Wright M, Ryder S, Forrest EH; STOPAH Trial
N Engl J Med 2015 Apr 23;372(17):1619-28. doi: 10.1056/NEJMoa1412278. PMID: 25901427

Therapy

Randomized Trial of Metformin, Ivermectin, and Fluvoxamine for Covid-19.
Bramante CT, Huling JD, Tignanelli CJ, Buse JB, Liebovitz DM, Nicklas JM, Cohen K, Puskarich MA, Belani HK, Proper JL, Siegel LK, Klatt NR, Odde DJ, Luke DG, Anderson B, Karger AB, Ingraham NE, Hartman KM, Rao V, Hagen AA, Patel B, Fenno SL, Avula N, Reddy NV, Erickson SM, Lindberg S, Fricton R, Lee S, Zaman A, Saveraid HG, Tordsen WJ, Pullen MF, Biros M, Sherwood NE, Thompson JL, Boulware DR, Murray TA; COVID-OUT Trial Team
N Engl J Med 2022 Aug 18;387(7):599-610. doi: 10.1056/NEJMoa2201662. PMID: 36070710Free PMC Article
Metformin: Is it a drug for all reasons and diseases?
Triggle CR, Mohammed I, Bshesh K, Marei I, Ye K, Ding H, MacDonald R, Hollenberg MD, Hill MA
Metabolism 2022 Aug;133:155223. Epub 2022 May 29 doi: 10.1016/j.metabol.2022.155223. PMID: 35640743
Mid and long-term neurological and neuropsychiatric manifestations of post-COVID-19 syndrome: A meta-analysis.
Premraj L, Kannapadi NV, Briggs J, Seal SM, Battaglini D, Fanning J, Suen J, Robba C, Fraser J, Cho SM
J Neurol Sci 2022 Mar 15;434:120162. Epub 2022 Jan 29 doi: 10.1016/j.jns.2022.120162. PMID: 35121209Free PMC Article
COVID-19 and COPD.
Leung JM, Niikura M, Yang CWT, Sin DD
Eur Respir J 2020 Aug;56(2) Epub 2020 Aug 13 doi: 10.1183/13993003.02108-2020. PMID: 32817205Free PMC Article
Risks and Benefits of Chimeric Antigen Receptor T-Cell (CAR-T) Therapy in Cancer: A Systematic Review and Meta-Analysis.
Grigor EJM, Fergusson D, Kekre N, Montroy J, Atkins H, Seftel MD, Daugaard M, Presseau J, Thavorn K, Hutton B, Holt RA, Lalu MM
Transfus Med Rev 2019 Apr;33(2):98-110. Epub 2019 Feb 14 doi: 10.1016/j.tmrv.2019.01.005. PMID: 30948292

Prognosis

Early short course of neuromuscular blocking agents in patients with COVID-19 ARDS: a propensity score analysis.
Li Bassi G, Gibbons K, Suen JY, Dalton HJ, White N, Corley A, Shrapnel S, Hinton S, Forsyth S, Laffey JG, Fan E, Fanning JP, Panigada M, Bartlett R, Brodie D, Burrell A, Chiumello D, Elhazmi A, Esperatti M, Grasselli G, Hodgson C, Ichiba S, Luna C, Marwali E, Merson L, Murthy S, Nichol A, Ogino M, Pelosi P, Torres A, Ng PY, Fraser JF; COVID-19 Critical Care Consortium
Crit Care 2022 May 17;26(1):141. doi: 10.1186/s13054-022-03983-5. PMID: 35581612Free PMC Article
Climate change and epilepsy: Insights from clinical and basic science studies.
Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate Change Consortium, Sisodiya SM
Epilepsy Behav 2021 Mar;116:107791. Epub 2021 Feb 10 doi: 10.1016/j.yebeh.2021.107791. PMID: 33578223Free PMC Article
SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
COVID-19 and COPD.
Leung JM, Niikura M, Yang CWT, Sin DD
Eur Respir J 2020 Aug;56(2) Epub 2020 Aug 13 doi: 10.1183/13993003.02108-2020. PMID: 32817205Free PMC Article
A SARS-CoV-2 protein interaction map reveals targets for drug repurposing.
Gordon DE, Jang GM, Bouhaddou M, Xu J, Obernier K, White KM, O'Meara MJ, Rezelj VV, Guo JZ, Swaney DL, Tummino TA, Hüttenhain R, Kaake RM, Richards AL, Tutuncuoglu B, Foussard H, Batra J, Haas K, Modak M, Kim M, Haas P, Polacco BJ, Braberg H, Fabius JM, Eckhardt M, Soucheray M, Bennett MJ, Cakir M, McGregor MJ, Li Q, Meyer B, Roesch F, Vallet T, Mac Kain A, Miorin L, Moreno E, Naing ZZC, Zhou Y, Peng S, Shi Y, Zhang Z, Shen W, Kirby IT, Melnyk JE, Chorba JS, Lou K, Dai SA, Barrio-Hernandez I, Memon D, Hernandez-Armenta C, Lyu J, Mathy CJP, Perica T, Pilla KB, Ganesan SJ, Saltzberg DJ, Rakesh R, Liu X, Rosenthal SB, Calviello L, Venkataramanan S, Liboy-Lugo J, Lin Y, Huang XP, Liu Y, Wankowicz SA, Bohn M, Safari M, Ugur FS, Koh C, Savar NS, Tran QD, Shengjuler D, Fletcher SJ, O'Neal MC, Cai Y, Chang JCJ, Broadhurst DJ, Klippsten S, Sharp PP, Wenzell NA, Kuzuoglu-Ozturk D, Wang HY, Trenker R, Young JM, Cavero DA, Hiatt J, Roth TL, Rathore U, Subramanian A, Noack J, Hubert M, Stroud RM, Frankel AD, Rosenberg OS, Verba KA, Agard DA, Ott M, Emerman M, Jura N, von Zastrow M, Verdin E, Ashworth A, Schwartz O, d'Enfert C, Mukherjee S, Jacobson M, Malik HS, Fujimori DG, Ideker T, Craik CS, Floor SN, Fraser JS, Gross JD, Sali A, Roth BL, Ruggero D, Taunton J, Kortemme T, Beltrao P, Vignuzzi M, García-Sastre A, Shokat KM, Shoichet BK, Krogan NJ
Nature 2020 Jul;583(7816):459-468. Epub 2020 Apr 30 doi: 10.1038/s41586-020-2286-9. PMID: 32353859Free PMC Article

Clinical prediction guides

Early short course of neuromuscular blocking agents in patients with COVID-19 ARDS: a propensity score analysis.
Li Bassi G, Gibbons K, Suen JY, Dalton HJ, White N, Corley A, Shrapnel S, Hinton S, Forsyth S, Laffey JG, Fan E, Fanning JP, Panigada M, Bartlett R, Brodie D, Burrell A, Chiumello D, Elhazmi A, Esperatti M, Grasselli G, Hodgson C, Ichiba S, Luna C, Marwali E, Merson L, Murthy S, Nichol A, Ogino M, Pelosi P, Torres A, Ng PY, Fraser JF; COVID-19 Critical Care Consortium
Crit Care 2022 May 17;26(1):141. doi: 10.1186/s13054-022-03983-5. PMID: 35581612Free PMC Article
Venovenous extracorporeal membrane oxygenation in patients with acute covid-19 associated respiratory failure: comparative effectiveness study.
Urner M, Barnett AG, Bassi GL, Brodie D, Dalton HJ, Ferguson ND, Heinsar S, Hodgson CL, Peek G, Shekar K, Suen JY, Fraser JF, Fan E; COVID-19 Critical Care Consortium Investigators
BMJ 2022 May 4;377:e068723. doi: 10.1136/bmj-2021-068723. PMID: 35508314Free PMC Article
Climate change and epilepsy: Insights from clinical and basic science studies.
Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate Change Consortium, Sisodiya SM
Epilepsy Behav 2021 Mar;116:107791. Epub 2021 Feb 10 doi: 10.1016/j.yebeh.2021.107791. PMID: 33578223Free PMC Article
SARS-CoV-2 evolution during treatment of chronic infection.
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
A SARS-CoV-2 protein interaction map reveals targets for drug repurposing.
Gordon DE, Jang GM, Bouhaddou M, Xu J, Obernier K, White KM, O'Meara MJ, Rezelj VV, Guo JZ, Swaney DL, Tummino TA, Hüttenhain R, Kaake RM, Richards AL, Tutuncuoglu B, Foussard H, Batra J, Haas K, Modak M, Kim M, Haas P, Polacco BJ, Braberg H, Fabius JM, Eckhardt M, Soucheray M, Bennett MJ, Cakir M, McGregor MJ, Li Q, Meyer B, Roesch F, Vallet T, Mac Kain A, Miorin L, Moreno E, Naing ZZC, Zhou Y, Peng S, Shi Y, Zhang Z, Shen W, Kirby IT, Melnyk JE, Chorba JS, Lou K, Dai SA, Barrio-Hernandez I, Memon D, Hernandez-Armenta C, Lyu J, Mathy CJP, Perica T, Pilla KB, Ganesan SJ, Saltzberg DJ, Rakesh R, Liu X, Rosenthal SB, Calviello L, Venkataramanan S, Liboy-Lugo J, Lin Y, Huang XP, Liu Y, Wankowicz SA, Bohn M, Safari M, Ugur FS, Koh C, Savar NS, Tran QD, Shengjuler D, Fletcher SJ, O'Neal MC, Cai Y, Chang JCJ, Broadhurst DJ, Klippsten S, Sharp PP, Wenzell NA, Kuzuoglu-Ozturk D, Wang HY, Trenker R, Young JM, Cavero DA, Hiatt J, Roth TL, Rathore U, Subramanian A, Noack J, Hubert M, Stroud RM, Frankel AD, Rosenberg OS, Verba KA, Agard DA, Ott M, Emerman M, Jura N, von Zastrow M, Verdin E, Ashworth A, Schwartz O, d'Enfert C, Mukherjee S, Jacobson M, Malik HS, Fujimori DG, Ideker T, Craik CS, Floor SN, Fraser JS, Gross JD, Sali A, Roth BL, Ruggero D, Taunton J, Kortemme T, Beltrao P, Vignuzzi M, García-Sastre A, Shokat KM, Shoichet BK, Krogan NJ
Nature 2020 Jul;583(7816):459-468. Epub 2020 Apr 30 doi: 10.1038/s41586-020-2286-9. PMID: 32353859Free PMC Article

Recent systematic reviews

Definition and surgical timing in cauda equina syndrome-An updated systematic review.
Mustafa MA, Richardson GE, Gillespie CS, Islim AI, Wilby M, Clark S, Srikandarajah N
PLoS One 2023;18(5):e0285006. Epub 2023 May 4 doi: 10.1371/journal.pone.0285006. PMID: 37141301Free PMC Article
Risks and Benefits of Chimeric Antigen Receptor T-Cell (CAR-T) Therapy in Cancer: A Systematic Review and Meta-Analysis.
Grigor EJM, Fergusson D, Kekre N, Montroy J, Atkins H, Seftel MD, Daugaard M, Presseau J, Thavorn K, Hutton B, Holt RA, Lalu MM
Transfus Med Rev 2019 Apr;33(2):98-110. Epub 2019 Feb 14 doi: 10.1016/j.tmrv.2019.01.005. PMID: 30948292
High-flow nasal cannulae for respiratory support in adult intensive care patients.
Corley A, Rickard CM, Aitken LM, Johnston A, Barnett A, Fraser JF, Lewis SR, Smith AF
Cochrane Database Syst Rev 2017 May 30;5(5):CD010172. doi: 10.1002/14651858.CD010172.pub2. PMID: 28555461Free PMC Article
Extracorporeal Membrane Oxygenation in Pregnant and Postpartum Women With H1N1-Related Acute Respiratory Distress Syndrome: A Systematic Review and Meta-analysis.
Saad AF, Rahman M, Maybauer DM, Fraser JF, Costantine MM, Pacheco LD, Maybauer MO
Obstet Gynecol 2016 Feb;127(2):241-7. doi: 10.1097/AOG.0000000000001236. PMID: 26942349
The epidemiology of silent brain infarction: a systematic review of population-based cohorts.
Fanning JP, Wong AA, Fraser JF
BMC Med 2014 Jul 9;12:119. doi: 10.1186/s12916-014-0119-0. PMID: 25012298Free PMC Article

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