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.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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PMID (PMCID)
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.
9600744	MIXED_SAMPLE	Infant
	Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
	Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Am J Med Genet. 1998;77(4):322-9.
	Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type craniosynostosis and brachydactyly-craniosynostosis syndrome [Ades et al.