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Fraser syndrome 3(FRASRS3)

MedGen UID:
1621907
Concept ID:
C4540040
Disease or Syndrome
Synonyms: FRASER SYNDROME 3; FRASRS3
 
Gene (location): GRIP1 (12q14.3)
 
Monarch Initiative: MONDO:0054739
OMIM®: 617667

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
Hypoplasia of scrotum
MedGen UID:
98138
Concept ID:
C0431659
Congenital Abnormality
Apparently small scrotum for age.
Hypoplasia of the bladder
MedGen UID:
340845
Concept ID:
C1855335
Finding
Underdevelopment of the urinary bladder.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
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.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Tracheal atresia
MedGen UID:
75584
Concept ID:
C0265766
Congenital Abnormality
A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
A developmental defect in the formation of pulmonary lobes.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
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.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.

Professional guidelines

PubMed

Williams EL, Raj SR, Schondorf R, Shen WK, Wieling W, Claydon VE
Auton Neurosci 2022 Jan;237:102906. Epub 2021 Nov 11 doi: 10.1016/j.autneu.2021.102906. PMID: 34823150
Braley EF, Bedard AC, Nuk J, Hong Q, Bedard JEJ, Sun S, Schrader KA
Fam Cancer 2022 Jul;21(3):369-374. Epub 2021 Jul 7 doi: 10.1007/s10689-021-00270-0. PMID: 34232459
Chiu AW, Contreras S, Mehta S, Korman J, Perreault MM, Williamson DR, Burry LD
Ann Pharmacother 2017 Dec;51(12):1099-1111. Epub 2017 Aug 9 doi: 10.1177/1060028017724538. PMID: 28793780

Recent clinical studies

Etiology

Marwali EM, Kekalih A, Yuliarto S, Wati DK, Rayhan M, Valerie IC, Cho HJ, Jassat W, Blumberg L, Masha M, Semple C, Swann OV, Kohns Vasconcelos M, Popielska J, Murthy S, Fowler RA, Guerguerian AM, Streinu-Cercel A, Pathmanathan MD, Rojek A, Kartsonaki C, Gonçalves BP, Citarella BW, Merson L, Olliaro PL, Dalton HJ; International Severe Acute Respiratory and emerging Infection Consortium (ISARIC) Clinical Characterization Group Investigators
BMJ Paediatr Open 2022 Oct;6(1) doi: 10.1136/bmjpo-2022-001657. PMID: 36645791Free PMC Article
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
STARSurg Collaborative and COVIDSurg Collaborative
Br J Surg 2021 Dec 1;108(12):1448-1464. doi: 10.1093/bjs/znab336. PMID: 34871379Free PMC Article
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
Bonaca MP, Bhatt DL, Cohen M, Steg PG, Storey RF, Jensen EC, Magnani G, Bansilal S, Fish MP, Im K, Bengtsson O, Oude Ophuis T, Budaj A, Theroux P, Ruda M, Hamm C, Goto S, Spinar J, Nicolau JC, Kiss RG, Murphy SA, Wiviott SD, Held P, Braunwald E, Sabatine MS; PEGASUS-TIMI 54 Steering Committee and Investigators
N Engl J Med 2015 May 7;372(19):1791-800. Epub 2015 Mar 14 doi: 10.1056/NEJMoa1500857. PMID: 25773268

Diagnosis

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
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
Fraser CL
Curr Neurol Neurosci Rep 2022 Mar;22(3):209-217. Epub 2022 Mar 2 doi: 10.1007/s11910-022-01182-x. PMID: 35235167Free PMC Article
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
STARSurg Collaborative and COVIDSurg Collaborative
Br J Surg 2021 Dec 1;108(12):1448-1464. doi: 10.1093/bjs/znab336. PMID: 34871379Free PMC Article

Therapy

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
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
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
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
Bonaca MP, Bhatt DL, Cohen M, Steg PG, Storey RF, Jensen EC, Magnani G, Bansilal S, Fish MP, Im K, Bengtsson O, Oude Ophuis T, Budaj A, Theroux P, Ruda M, Hamm C, Goto S, Spinar J, Nicolau JC, Kiss RG, Murphy SA, Wiviott SD, Held P, Braunwald E, Sabatine MS; PEGASUS-TIMI 54 Steering Committee and Investigators
N Engl J Med 2015 May 7;372(19):1791-800. Epub 2015 Mar 14 doi: 10.1056/NEJMoa1500857. PMID: 25773268

Prognosis

Cairncross M, Yeates KO, Tang K, Madigan S, Beauchamp MH, Craig W, Doan Q, Zemek R, Kowalski K, Silverberg ND
Pediatrics 2022 Nov 1;150(5) doi: 10.1542/peds.2022-056835. PMID: 36250231
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
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
Lisonkova S, Richter LL, Ting J, Muraca GM, Wen Q, Mehrabadi A, Mitchell-Foster S, Oviedo-Joekes E, Lyons J
Pediatrics 2019 Aug;144(2) Epub 2019 Jul 12 doi: 10.1542/peds.2018-3664. PMID: 31300529
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

Clinical prediction guides

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
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
COVIDSurg Collaborative
Cancer 2021 Jul 15;127(14):2476-2488. Epub 2020 Dec 21 doi: 10.1002/cncr.33320. PMID: 33345297
Glasbey JC, Nepogodiev D, Simoes JFF, Omar O, Li E, Venn ML, Pgdme, Abou Chaar MK, Capizzi V, Chaudhry D, Desai A, Edwards JG, Evans JP, Fiore M, Videria JF, Ford SJ, Ganly I, Griffiths EA, Gujjuri RR, Kolias AG, Kaafarani HMA, Minaya-Bravo A, McKay SC, Mohan HM, Roberts KJ, San Miguel-Méndez C, Pockney P, Shaw R, Smart NJ, Stewart GD, Sundar Mrcog S, Vidya R, Bhangu AA; COVIDSurg Collaborative
J Clin Oncol 2021 Jan 1;39(1):66-78. Epub 2020 Oct 6 doi: 10.1200/JCO.20.01933. PMID: 33021869Free PMC Article
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

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
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
Melendez-Torres GJ, Auguste P, Armoiry X, Maheswaran H, Court R, Madan J, Kan A, Lin S, Counsell C, Patterson J, Rodrigues J, Ciccarelli O, Fraser H, Clarke A
Health Technol Assess 2017 Sep;21(52):1-352. doi: 10.3310/hta21520. PMID: 28914229Free PMC Article
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
Kandler MR, Mah GT, Tejani AM, Stabler SN, Salzwedel DM
Cochrane Database Syst Rev 2011 Nov 9;(11):CD004934. doi: 10.1002/14651858.CD004934.pub4. PMID: 22071816

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