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Results 1 - 10 of 18 for Pfeiffer syndrome
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  1. Pfeiffer syndrome 
    Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  2. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/pfeiffer-guide_2018.pdf - External Health Links
  3. FGFR1 gene 
    ... function" variants in the FGFR1 gene can cause Pfeiffer syndrome. This condition is characterized by craniosynostosis, which leads ... factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) FLG FLJ14326 FLT2 FMS-like gene FMS-like ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  4. FGFR2 gene 
    ... 25 mutations in the FGFR2 gene can cause Pfeiffer syndrome, a condition that causes craniosynostosis, leading to a ... K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150- ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. Craniofacial Abnormalities (National Library of Medicine)  
    Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ...
    https://medlineplus.gov/craniofacialabnormalities.html - Health Topics
  6. Webbing of the fingers or toes 
    ... Apert syndrome Carpenter syndrome Cornelia de Lange syndrome Pfeiffer syndrome Smith-Lemli-Opitz syndrome Use of the medicine ...
    https://medlineplus.gov/ency/article/003289.htm - Medical Encyclopedia
  7. Sutures - ridged 
    ... Congenital craniosynostosis Crouzon syndrome Apert syndrome Carpenter syndrome Pfeiffer syndrome
    https://medlineplus.gov/ency/article/003308.htm - Medical Encyclopedia
  8. Frontal bossing 
    ... Congenital syphilis Cleidocranial dysostosis Crouzon syndrome Hurler syndrome Pfeiffer syndrome Rubinstein-Taybi syndrome Russell-Silver syndrome (Russell-Silver ...
    https://medlineplus.gov/ency/article/003301.htm - Medical Encyclopedia
  9. Apert syndrome 
    ... kleeblattschadel, cloverleaf skull deformity) Crouzon disease (craniofacial dysostosis) Pfeiffer syndrome Saethre-Chotzen syndrome
    https://medlineplus.gov/ency/article/001581.htm - Medical Encyclopedia
  10. Craniosynostosis 
    ... craniosynostosis include Crouzon, Apert, Carpenter, Saethre-Chotzen, and Pfeiffer syndromes. However, most children with craniosynostosis are otherwise healthy ...
    https://medlineplus.gov/ency/article/001590.htm - Medical Encyclopedia
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