Look up: Pfeiffer Syndrome


  1. Pfeiffer syndrome
    Pfeiffer syndrome: A syndrome of craniosynostosis (premature fusion of the cranial sutures) due to mutation in FGFR (fibroblast growth factor receptor) characterized by bulging eyes (proptosis) due to shallow eye sockets, underdevelopment of the midface and broad short thumbs and big toes. There are...
    Found op http://www.medterms.com/script/main/art.html?articlekey=11879

  2. Pfeiffer syndrome
    (fi´fer) a hereditary autosomal dominant disorder characterized by conical deformity of the head, extra fingers and toes, webbed fingers and toes, and broad short thumbs and great toes. Called also acrocephalosyndactyly, type V, and acrocephalopolysyndactyly, type I.
    Found op http://www.encyclo.co.uk/local/21001

  3. Pfeiffer syndrome
    Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.{rp|577} It is named after Rudolf Arthur Pfeiffer (b. 1931) who, in 1964, descri...
    Found op http://en.wikipedia.org/wiki/Pfeiffer_syndrome

  4. Pfeiffer Syndrome
    A birth defect in which the sutures of the skull fuse together too early and a deformed skull develops. Common characteristics of Pfeiffer syndrome include bulging wide-set eyes, shallow eye sockets, an abnormal looking midface, prematurely fused skull that cannot grow properly, short thumbs, big to...
    Found op http://www.pregnology.com/AZ/P/4

  5. Pfeiffer syndrome
    Type: Term Pronunciation: fī′fĕr Definitions: 1. disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation i...
    Found op http://www.medilexicon.com/medicaldictionary.php?t=88688

  6. Pfeiffer's syndrome
    Synonym for type V acrocephalosyndactyly ... Acrocephalosyndactyly with broad short thumbs and great toes, often with duplication (polydactyly) of the great toes and variable syndactyly of other digits; autosomal dominant inheritance. ... Synonym: Pfeiffer's syndrome. ... (05 Mar 2000) ...
    Found op http://www.mondofacto.com/facts/dictionary?Pfeiffer's+syndrome

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