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.

Broad thumb

Increased thumb width without increased dorso-ventral dimension.


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PMID (PMCID)
19390453
 OTHER
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.
Kohan E, Longaker MT, Nguyen J, Kawamoto H, Wexler A, Cahan L, Katchikian HV, Bradley JP.
J Craniofac Surg. 2009;20(3):811-5.
Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad thumbs/toes.
19390453
 OTHER
Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.
Kohan E, Longaker MT, Nguyen J, Kawamoto H, Wexler A, Cahan L, Katchikian HV, Bradley JP.
J Craniofac Surg. 2009;20(3):811-5.
Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad thumbs/toes.
19856868
 FEMALE Infant, Newborn
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.
She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome.
16614535
(2734025)
 FEMALE Infant, Newborn
A case of Pfeiffer syndrome.
Park MS, Yoo JE, Chung J, Yoon SH.
J Korean Med Sci. 2006;21(2):374-8.
The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes.
16955501
 FEMALE Infant
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.
Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly.
15305355
 FEMALE Adult
Prenatal diagnosis of Pfeiffer syndrome type II.
Blaumeiser B, Loquet P, Wuyts W, Nothen MM.
Prenat Diagn. 2004;24(8):644-6.
Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes.
15565658
 MIXED_SAMPLE Adult
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.
We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation.
14564217
 FEMALE
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM.
Clin Dysmorphol. 2003;12(4):269-74.
Patients affected by Pfeiffer syndrome generally present with syndromic craniosynostosis and typical limb defects including broad thumbs, wide halluces with varus deformity, toe syndactyly and sometimes elbow ankylosis.
9714439
 MALE Infant, Newborn
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.
The phenotype of this patient is consistent with that previously reported in Pfeiffer syndrome type III, but is unusual for the lack of broad thumbs.
9457499
 MALE Infant, Newborn
A new case of Pfeiffer syndrome with mutation in FGFR2.
Addor MC, Gudinchet F, Laurini RN, Pescia G, Schorderet DF.
Genet Couns. 1997;8(4):303-9.
We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise.
9002682
 MIXED_SAMPLE Child
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
Hum Mol Genet. 1997;6(1):137-43.
Finally, a CGC-->TCT mutation that predicts a double amino acid substitution (Ser252Phe and Pro253Ser) causes a Pfeiffer syndrome variant with mild craniosynostosis, broad thumbs and big toes, fixed extension of several digits, and only minimal cutaneous syndactyly.