Pfeiffer syndrome

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.



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Narrow down the case reports



Total: 76 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(69.1%)		 19856868
 Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.
Su PH, Chen JY, Lee IC, Ng YY, Hu JM, Chen SJ.
Pediatr Neonatol. 2009;50(5):234-8.
Microcephaly Smooth philtrum Broad thumb Short palpebral fissure
Acrocephalosyndactylia Females Fibroblast Growth Factor Receptors Holoprosencephaly Homo sapiens Infant, Newborn Smoking
2
(63.5%)		 16955501
 Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.
Birth Defects Res A Clin Mol Teratol. 2006;76(8):629-33.
Trigonocephaly Downslanted palpebral fissures Brachydactyly Broad thumb
FGFR2
c|SUB|G|890|C p|SUB|TRY|290|C
Acrocephalosyndactylia Amino Acid Substitution DNA Mutational Analysis Females Fibroblast Growth Factor Receptor 2 Homo sapiens Infant Phenotype Point Mutation Sacrococcygeal Region
3
(58.9%)		 957376
 Pfeiffer syndrome: report of a family and review of the literature.
Naveh Y, Friedman A.
J Med Genet. 1976;13(4):277-80.
Brachydactyly Broad phalanx Slanting of the palpebral fissure
Acrocephalosyndactylia Adult Child, Preschool Foot Homo sapiens Male
4
(56.1%)		 31002276
 Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Pena-Padilla C, Viramontes-Aguilar L, Tavares-Macias G, Bobadilla-Morales L, L Cunningham M, Park S, Zapata-Aldana E, Corona-Rivera JR.
Fetal Pediatr Pathol. 2019;:1-6.
Cloverleaf skull Broad thumb
Acrocephalosyndactylia Fatal Outcome Females Homo sapiens Infant, Newborn Prune Belly Syndrome
4
(56.1%)		 16490997
 Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.
Itoh S, Nojima M, Yoshida K.
Fetal Diagn Ther. 2006;21(2):168-71.
Cloverleaf skull Broad thumb
FGFR2
c|SUB|A|1198|G
Acrocephalosyndactylia Adult Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Pregnancy Ultrasonography, Prenatal
4
(56.1%)		 15565658
 Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.
Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G.
Prenat Diagn. 2004;24(11):918-22.
Cloverleaf skull Broad thumb
FGFR2
c|SUB|G|870|C;RS#:121918499
Acrocephalosyndactylia Adult DNA Differential Diagnosis Females Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Male Polymerase Chain Reaction Pregnancy Pregnancy Trimester, Second Receptor Protein-Tyrosine Kinases Ultrasonography, Prenatal
4
(56.1%)		 9714439
 Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.
Am J Med Genet. 1998;78(4):356-60.
Cloverleaf skull Broad thumb
FGFR1 FGFR2
p|SUB|S|351|C;RS#:121918502 rs121918502
Acrocephalosyndactylia Amino Acid Substitution Congenital Foot Deformity Congenital Hand Deformities Elbow Eye Abnormalities Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant, Newborn Male Phenotype Point Mutation Receptor Protein-Tyrosine Kinases Single-Stranded Conformational Polymorphism
4
(56.1%)		 9475590
 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;75(3):245-51.
Cloverleaf skull Broad thumb
FGFR2
c|SUB|T|1036|C
Acrocephalosyndactylia Child, Preschool Females Fetal Death Fibroblast Growth Factor Fibroblast Growth Factor Receptor 1 Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant, Newborn Male Receptor Protein-Tyrosine Kinases
9
(51.6%)		 11807866
 Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
Teebi AS, Kennedy S, Chun K, Ray PN.
Am J Med Genet. 2002;107(1):43-7.
Brachycephaly Elbow ankylosis
FGFR1 FGFR2
c|INDEL|952-3,10|ACC c|SUB|G|952-1|A rs879253719
Acrocephalosyndactylia Alternative Splicing Child, Preschool Exons Females Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Gene Deletion Homo sapiens Male Phenotype Point Mutation Receptor Protein-Tyrosine Kinases
10
(48.8%)		 24036790
 Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.
Ettinger N, Williams M, Phillips JA 3rd.
J Craniofac Surg. 2013;24(5):1829-32.
Syndactyly Cloverleaf skull
FGFR2
c|SUB|G|870|T;RS#:121918499 rs121918499
Acrocephalosyndactylia Differential Diagnosis Fatal Outcome Females Genotype Homo sapiens Infant, Newborn Mutation Phenotype X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000508 Ptosis Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0000262 Turricephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0009773 Symphalangism affecting the phalanges of the hand Frequent (79-30%)
HP:0000194 Open mouth Occasional (29-5%)
HP:0000218 High palate Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0001385 Hip dysplasia Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0005048 Synostosis of carpal bones Occasional (29-5%)
HP:0012368 Flat face Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 32

HPO ID Term # of case reports
HP:0011304 Broad thumb 10
HP:0002676 Cloverleaf skull 7
HP:0000520 Proptosis 6
HP:0001159 Syndactyly 3
HP:0002516 Increased intracranial pressure 3
HP:0000238 Hydrocephalus 2
HP:0001156 Brachydactyly 2
HP:0012725 Cutaneous syndactyly 2
HP:0000316 Hypertelorism 1
HP:0000482 Microcornea 1
HP:0000501 Glaucoma 1
HP:0000508 Ptosis 1
HP:0000821 Hypothyroidism 1
HP:0001085 Papilledema 1
HP:0001155 Abnormality of the hand 1
HP:0001195 Single umbilical artery 1
HP:0001249 Intellectual disability 1
HP:0001334 Communicating hydrocephalus 1
HP:0001647 Bicuspid aortic valve 1
HP:0001770 Toe syndactyly 1
HP:0002013 Vomiting 1
HP:0002090 Pneumonia 1
HP:0002202 Pleural effusion 1
HP:0002756 Pathologic fracture 1
HP:0002878 Respiratory failure 1
HP:0003070 Elbow ankylosis 1
HP:0004392 Prune belly 1
HP:0005347 Cartilaginous trachea 1
HP:0008080 Hallux varus 1
HP:0011325 Pansynostosis 1
HP:0100259 Postaxial polydactyly 1
HP:0100543 Cognitive impairment 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID