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PFEIFFER SYNDROME VARIANT

MedGen UID:
864781
•Concept ID:
C4016344
•
Finding
OMIM®: 176943

Professional guidelines

PubMed

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y
Mol Genet Genomic Med 2022 Apr;10(4):e1901. Epub 2022 Mar 2 doi: 10.1002/mgg3.1901. PMID: 35235708Free PMC Article
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ
Heart Rhythm 2010 Jan;7(1):33-46. Epub 2009 Oct 8 doi: 10.1016/j.hrthm.2009.09.069. PMID: 20129283Free PMC Article

Recent clinical studies

Etiology

Immunogenicity and safety of a fourth homologous dose of NVX-CoV2373.
Alves K, Plested JS, Galbiati S, Chau G, Cloney-Clark S, Zhu M, Kalkeri R, Patel N, Smith K, Marcheschi A, Pfeiffer S, McFall H, Smith G, Glenn GM, Dubovsky F, Mallory RM; Novavax 2019nCoV-101 Study Group
Vaccine 2023 Jun 29;41(29):4280-4286. Epub 2023 Jun 2 doi: 10.1016/j.vaccine.2023.05.051. PMID: 37271706Free PMC Article
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR
Circulation 2020 Jul 28;142(4):324-338. Epub 2020 May 20 doi: 10.1161/CIRCULATIONAHA.120.045956. PMID: 32429735Free PMC Article
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ
Heart Rhythm 2010 Jan;7(1):33-46. Epub 2009 Oct 8 doi: 10.1016/j.hrthm.2009.09.069. PMID: 20129283Free PMC Article

Diagnosis

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR
Circulation 2020 Jul 28;142(4):324-338. Epub 2020 May 20 doi: 10.1161/CIRCULATIONAHA.120.045956. PMID: 32429735Free PMC Article
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Understanding Subdural Collections in Pediatric Abusive Head Trauma.
Wittschieber D, Karger B, Pfeiffer H, Hahnemann ML
AJNR Am J Neuroradiol 2019 Mar;40(3):388-395. Epub 2018 Dec 6 doi: 10.3174/ajnr.A5855. PMID: 30523144Free PMC Article
Craniosynostosis update 1987.
Cohen MM Jr
Am J Med Genet Suppl 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990

Therapy

Immunogenicity of Monovalent mRNA-1273 and BNT162b2 Vaccines in Children <5 Years of Age.
Dalapati T, Williams CA, Giorgi EE, Hurst JH, Herbek S, Chen JL, Kosman C, Rotta AT, Turner NA, Pulido N, Aquino JN, Pfeiffer TS, Rodriguez J, Fouda GG, Permar SR, Kelly MS
Pediatrics 2024 Jun 1;153(6) doi: 10.1542/peds.2024-066190. PMID: 38548700Free PMC Article
Immunogenicity and safety of a fourth homologous dose of NVX-CoV2373.
Alves K, Plested JS, Galbiati S, Chau G, Cloney-Clark S, Zhu M, Kalkeri R, Patel N, Smith K, Marcheschi A, Pfeiffer S, McFall H, Smith G, Glenn GM, Dubovsky F, Mallory RM; Novavax 2019nCoV-101 Study Group
Vaccine 2023 Jun 29;41(29):4280-4286. Epub 2023 Jun 2 doi: 10.1016/j.vaccine.2023.05.051. PMID: 37271706Free PMC Article
Characterization of subdural collections in initial neuroimaging of abusive head trauma: Implications for forensic age diagnostics and clinical decision-making.
Hahnemann ML, Kronsbein K, Karger B, Feld K, Banaschak S, Helmus J, Mentzel HJ, Pfeiffer H, Wittschieber D
Eur J Radiol 2023 Feb;159:110652. Epub 2022 Dec 15 doi: 10.1016/j.ejrad.2022.110652. PMID: 36577185
Dietary Fat Intake Modulates Effects of a Frequent ACE Gene Variant on Glucose Tolerance with association to Type 2 Diabetes.
Schüler R, Osterhoff MA, Frahnow T, Möhlig M, Spranger J, Stefanovski D, Bergman RN, Xu L, Seltmann AC, Kabisch S, Hornemann S, Kruse M, Pfeiffer AFH
Sci Rep 2017 Aug 23;7(1):9234. doi: 10.1038/s41598-017-08300-7. PMID: 28835639Free PMC Article
High-Saturated-Fat Diet Increases Circulating Angiotensin-Converting Enzyme, Which Is Enhanced by the rs4343 Polymorphism Defining Persons at Risk of Nutrient-Dependent Increases of Blood Pressure.
Schüler R, Osterhoff MA, Frahnow T, Seltmann AC, Busjahn A, Kabisch S, Xu L, Mosig AS, Spranger J, Möhlig M, Hornemann S, Kruse M, Pfeiffer AF
J Am Heart Assoc 2017 Jan 17;6(1) doi: 10.1161/JAHA.116.004465. PMID: 28096099Free PMC Article

Prognosis

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jul;37(7):2391-2397. Epub 2021 Jan 6 doi: 10.1007/s00381-020-04993-w. PMID: 33404724
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH
J Med Genet 2021 Jun;58(6):362-368. Epub 2020 Jun 26 doi: 10.1136/jmedgenet-2020-106948. PMID: 32591344Free PMC Article
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR
Circulation 2020 Jul 28;142(4):324-338. Epub 2020 May 20 doi: 10.1161/CIRCULATIONAHA.120.045956. PMID: 32429735Free PMC Article
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS
PLoS One 2014;9(9):e106982. Epub 2014 Sep 3 doi: 10.1371/journal.pone.0106982. PMID: 25184293Free PMC Article

Clinical prediction guides

Immunogenicity and safety of a fourth homologous dose of NVX-CoV2373.
Alves K, Plested JS, Galbiati S, Chau G, Cloney-Clark S, Zhu M, Kalkeri R, Patel N, Smith K, Marcheschi A, Pfeiffer S, McFall H, Smith G, Glenn GM, Dubovsky F, Mallory RM; Novavax 2019nCoV-101 Study Group
Vaccine 2023 Jun 29;41(29):4280-4286. Epub 2023 Jun 2 doi: 10.1016/j.vaccine.2023.05.051. PMID: 37271706Free PMC Article
Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR
Circulation 2020 Jul 28;142(4):324-338. Epub 2020 May 20 doi: 10.1161/CIRCULATIONAHA.120.045956. PMID: 32429735Free PMC Article
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.
Adel M, Yamaguchi T, Tomita D, Nakawaki T, Kim YI, Hikita Y, Haga S, Takahashi M, Nadim MA, Kawaguchi A, Isa M, El-Kenany WH, El-Kadi AA, Park SB, Ishida H, Maki K, Kimura R
PLoS One 2017;12(1):e0170645. Epub 2017 Jan 27 doi: 10.1371/journal.pone.0170645. PMID: 28129408Free PMC Article

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    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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