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Pfeiffer Syndrome

Known as: Syndrome, Noack, ACS5, pfeiffers syndrome 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure… 
National Institutes of Health

Related topics

Related topics

13 relations
ACROCEPHALOPOLYSYNDACTYLY TYPE IVAcrocephalosyndactyliaArnold Chiari MalformationAutosomal dominant inheritance

Papers overview

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Review
2011
Review
2011
Attitudes about science and conceptual physics learning in university introductory physics courses
This paper examines the results of the repeated administration of the Colorado Learning Attitudes about Science Survey (CLASS) in… 
2007
2007
The effects on terrestrial arthropod communities of invasion of a coastal heath ecosystem by the exotic weed bitou bush (Chrysanthemoides monilifera ssp. rotundata L.)
Bitou bush (Chrysanthemoides monilifera ssp. rotundata) is a major environmental weed of littoral habitats on the southeastern… 
Highly Cited
2001
Highly Cited
2001
Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes
Dominant missense mutations in the genes encoding fibroblast growth factor receptors (FGFRs) 1–3 are the etiology of many… 
Review
1998
Review
1998
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification.
Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with… 
1998
1998
The feet in Pfeiffer's syndrome.
Broad toes are the classic clinical finding occurring in the feet in Pfeiffer's syndrome patients, but few cases undergo formal… 
Review
1995
Review
1995
Pfeiffer Syndrome: A Clinical Review
The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the… 
Review
1995
Review
1995
Spinal anomalies in Pfeiffer syndrome.
Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian… 
Review
1993
Review
1993
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3.
Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer… 
1990
1990
Congenital tracheal stenosis in Pfeiffer syndrome
We report an infant with Pfeiffer syndrome (acrocephalosyndactyly type V) and a solid cartilaginous trachea lacking rings. This… 
1980
1980
Pitfalls of genetic counselling in Pfeiffer's syndrome.
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly… 
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