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Absent tibia-polydactyly-arachnoid cyst syndrome

MedGen UID:
318725
Concept ID:
C1832859
Disease or Syndrome
Synonyms: Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies; Tibia absent polydactyly arachnoid cyst; Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0010981
OMIM®: 601027
Orphanet: ORPHA3328

Definition

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent tibia-polydactyly-arachnoid cyst syndrome

Professional guidelines

PubMed

Castro Rodríguez J, Rodríguez Perálvarez ML, Montero-Álvarez JL
Rev Esp Enferm Dig 2024 Jan;116(1):1-6. doi: 10.17235/reed.2023.9781/2023. PMID: 37522317
Cesaro S, Ljungman P, Mikulska M, Hirsch HH, von Lilienfeld-Toal M, Cordonnier C, Meylan S, Mehra V, Styczynski J, Marchesi F, Besson C, Baldanti F, Masculano RC, Beutel G, Einsele H, Azoulay E, Maertens J, de la Camara R; ECIL 9, Pagano L
Leukemia 2022 Jun;36(6):1467-1480. Epub 2022 Apr 29 doi: 10.1038/s41375-022-01578-1. PMID: 35488021Free PMC Article
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Recent clinical studies

Etiology

de Lima JD, de Paula AGP, Yuasa BS, de Souza Smanioto CC, da Cruz Silva MC, Dos Santos PI, Prado KB, Winter Boldt AB, Braga TT
Immunol Invest 2023 Apr;52(3):364-397. Epub 2023 Feb 6 doi: 10.1080/08820139.2023.2168554. PMID: 36745138
Santos IR, Raiter J, Lamego ÉC, Bandinelli MB, Dal Pont TP, Siqueira KF, Almeida BA, Panzeira W, Sonne L, Driemeier D, Pavarini SP
Vet Pathol 2023 Jan;60(1):8-20. Epub 2022 Sep 13 doi: 10.1177/03009858221122517. PMID: 36112908
Cesaro S, Ljungman P, Mikulska M, Hirsch HH, von Lilienfeld-Toal M, Cordonnier C, Meylan S, Mehra V, Styczynski J, Marchesi F, Besson C, Baldanti F, Masculano RC, Beutel G, Einsele H, Azoulay E, Maertens J, de la Camara R; ECIL 9, Pagano L
Leukemia 2022 Jun;36(6):1467-1480. Epub 2022 Apr 29 doi: 10.1038/s41375-022-01578-1. PMID: 35488021Free PMC Article
Li C, Chen Y, Zhao Y, Lung DC, Ye Z, Song W, Liu FF, Cai JP, Wong WM, Yip CC, Chan JF, To KK, Sridhar S, Hung IF, Chu H, Kok KH, Jin DY, Zhang AJ, Yuen KY
Clin Infect Dis 2022 Jun 10;74(11):1933-1950. doi: 10.1093/cid/ciab707. PMID: 34406358Free PMC Article
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Diagnosis

Santos IR, Raiter J, Lamego ÉC, Bandinelli MB, Dal Pont TP, Siqueira KF, Almeida BA, Panzeira W, Sonne L, Driemeier D, Pavarini SP
Vet Pathol 2023 Jan;60(1):8-20. Epub 2022 Sep 13 doi: 10.1177/03009858221122517. PMID: 36112908
Cesaro S, Ljungman P, Mikulska M, Hirsch HH, von Lilienfeld-Toal M, Cordonnier C, Meylan S, Mehra V, Styczynski J, Marchesi F, Besson C, Baldanti F, Masculano RC, Beutel G, Einsele H, Azoulay E, Maertens J, de la Camara R; ECIL 9, Pagano L
Leukemia 2022 Jun;36(6):1467-1480. Epub 2022 Apr 29 doi: 10.1038/s41375-022-01578-1. PMID: 35488021Free PMC Article
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Cortelazzo S, Ponzoni M, Ferreri AJ, Hoelzer D
Crit Rev Oncol Hematol 2011 Sep;79(3):330-43. Epub 2011 Jan 26 doi: 10.1016/j.critrevonc.2010.12.003. PMID: 21273093

Therapy

Cesaro S, Ljungman P, Mikulska M, Hirsch HH, von Lilienfeld-Toal M, Cordonnier C, Meylan S, Mehra V, Styczynski J, Marchesi F, Besson C, Baldanti F, Masculano RC, Beutel G, Einsele H, Azoulay E, Maertens J, de la Camara R; ECIL 9, Pagano L
Leukemia 2022 Jun;36(6):1467-1480. Epub 2022 Apr 29 doi: 10.1038/s41375-022-01578-1. PMID: 35488021Free PMC Article
Gao S, Wu Z, Arnold B, Diamond C, Batchu S, Giudice V, Alemu L, Raffo DQ, Feng X, Kajigaya S, Barrett J, Ito S, Young NS
Nat Commun 2022 Apr 11;13(1):1982. doi: 10.1038/s41467-022-29175-x. PMID: 35411048Free PMC Article
Li C, Chen Y, Zhao Y, Lung DC, Ye Z, Song W, Liu FF, Cai JP, Wong WM, Yip CC, Chan JF, To KK, Sridhar S, Hung IF, Chu H, Kok KH, Jin DY, Zhang AJ, Yuen KY
Clin Infect Dis 2022 Jun 10;74(11):1933-1950. doi: 10.1093/cid/ciab707. PMID: 34406358Free PMC Article
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Morley LC, Tang T, Yasmin E, Norman RJ, Balen AH
Cochrane Database Syst Rev 2017 Nov 29;11(11):CD003053. doi: 10.1002/14651858.CD003053.pub6. PMID: 29183107Free PMC Article

Prognosis

Biernacki MA, Lok J, Black RG, Foster KA, Cummings C, Woodward KB, Monahan T, Oehler VG, Stirewalt DL, Wu D, Rongvaux A, Deeg HJ, Bleakley M
J Immunother Cancer 2023 Dec 12;11(12) doi: 10.1136/jitc-2023-007490. PMID: 38164756Free PMC Article
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Gao S, Wu Z, Arnold B, Diamond C, Batchu S, Giudice V, Alemu L, Raffo DQ, Feng X, Kajigaya S, Barrett J, Ito S, Young NS
Nat Commun 2022 Apr 11;13(1):1982. doi: 10.1038/s41467-022-29175-x. PMID: 35411048Free PMC Article
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Cortelazzo S, Ponzoni M, Ferreri AJ, Hoelzer D
Crit Rev Oncol Hematol 2011 Sep;79(3):330-43. Epub 2011 Jan 26 doi: 10.1016/j.critrevonc.2010.12.003. PMID: 21273093

Clinical prediction guides

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Santos IR, Raiter J, Lamego ÉC, Bandinelli MB, Dal Pont TP, Siqueira KF, Almeida BA, Panzeira W, Sonne L, Driemeier D, Pavarini SP
Vet Pathol 2023 Jan;60(1):8-20. Epub 2022 Sep 13 doi: 10.1177/03009858221122517. PMID: 36112908
Gao S, Wu Z, Arnold B, Diamond C, Batchu S, Giudice V, Alemu L, Raffo DQ, Feng X, Kajigaya S, Barrett J, Ito S, Young NS
Nat Commun 2022 Apr 11;13(1):1982. doi: 10.1038/s41467-022-29175-x. PMID: 35411048Free PMC Article
Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, Silva DN, Velloso TRG, de Barros LAP
Spec Care Dentist 2018 May;38(3):172-175. Epub 2018 Apr 19 doi: 10.1111/scd.12288. PMID: 29672880
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article

Recent systematic reviews

Gong Y, Jiang T, He H, Wang Y, Wu GL, Shi Y, Cai Q, Xiong CL, Shen R, Li J
Clin Endocrinol (Oxf) 2023 May;98(5):682-691. Epub 2023 Feb 17 doi: 10.1111/cen.14885. PMID: 36746677
Pettersson SD, Kitlinski M, Miękisiak G, Ali S, Krakowiak M, Szmuda T
J Neurosurg Pediatr 2022 Apr 1;29(4):467-475. Epub 2021 Dec 31 doi: 10.3171/2021.11.PEDS21445. PMID: 34972081
Morley LC, Tang T, Yasmin E, Norman RJ, Balen AH
Cochrane Database Syst Rev 2017 Nov 29;11(11):CD003053. doi: 10.1002/14651858.CD003053.pub6. PMID: 29183107Free PMC Article
Dong JP, Gao W, Teng GG, Tian Y, Wang HH
Chin Med J (Engl) 2017 Jul 5;130(13):1604-1609. doi: 10.4103/0366-6999.208234. PMID: 28639577Free PMC Article
Pabalan N, Montagna E, Singian E, Tabangay L, Jarjanazi H, Barbosa CP, Bianco B
Cell Physiol Biochem 2016;39(6):2249-2261. Epub 2016 Nov 7 doi: 10.1159/000447918. PMID: 27832628

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