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Pfeiffer syndrome type 2

MedGen UID:
1761826
•Concept ID:
C5438849
•
Disease or Syndrome
SNOMED CT: Pfeiffer syndrome type 2 (1003916008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019660
Orphanet: ORPHA93259

Definition

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPfeiffer syndrome type 2

Professional guidelines

PubMed

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. PMID: 22872262Free 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
Pfeiffer syndrome: a treatment evaluation.
Fearon JA, Rhodes J
Plast Reconstr Surg 2009 May;123(5):1560-1569. doi: 10.1097/PRS.0b013e3181a2057e. PMID: 19407629

Recent clinical studies

Etiology

Pfeiffer syndrome type 2: further delineation and review of the literature.
Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE
Am J Med Genet 1998 Jan 23;75(3):245-51. PMID: 9475590

Diagnosis

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H
Am J Case Rep 2021 Aug 9;22:e932450. doi: 10.12659/AJCR.932450. PMID: 34366428Free PMC Article
A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History.
Colomb C, Hippard HK, Canadas K, Watcha M
A A Case Rep 2015 Aug 1;5(3):36-9. doi: 10.1213/XAA.0000000000000175. PMID: 26230305
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.
Koga H, Suga N, Nakamoto T, Tanaka K, Takahashi N
Am J Med Genet A 2012 Oct;158A(10):2506-10. Epub 2012 Sep 10 doi: 10.1002/ajmg.a.35590. PMID: 22965899
Pfeiffer Syndrome type 2--case report.
Oyamada MK, Ferreira HS, Hoff M
Sao Paulo Med J 2003 Jul 1;121(4):176-9. Epub 2003 Oct 29 doi: 10.1590/s1516-31802003000400008. PMID: 14595512Free PMC Article
Prenatal diagnosis of type 2 Pfeiffer syndrome.
Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanske AL, Bombard AT, Marion RW
Ultrasound Obstet Gynecol 1996 Dec;8(6):425-8. doi: 10.1046/j.1469-0705.1997.08060425.x. PMID: 9014285

Prognosis

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H
Am J Case Rep 2021 Aug 9;22:e932450. doi: 10.12659/AJCR.932450. PMID: 34366428Free PMC Article
Pfeiffer Syndrome type 2--case report.
Oyamada MK, Ferreira HS, Hoff M
Sao Paulo Med J 2003 Jul 1;121(4):176-9. Epub 2003 Oct 29 doi: 10.1590/s1516-31802003000400008. PMID: 14595512Free PMC Article
Prenatal diagnosis of type 2 Pfeiffer syndrome.
Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanske AL, Bombard AT, Marion RW
Ultrasound Obstet Gynecol 1996 Dec;8(6):425-8. doi: 10.1046/j.1469-0705.1997.08060425.x. PMID: 9014285

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