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29 results
  1. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... posted live 30 January 2006 (mm) Original submission References Literature Cited Agochukwu NB, Solomon BD, Benson LJ, Muenke M. Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature ...
  2. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... Review posted live March 1998 (nr) Original submission References Literature Cited Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation – case ...
  3. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... public domain in the United States of ... C, Hoyme HE, McGaughran J, Muenke M, Neri G. Elements of morphology: standard terminology ...
  4. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... Gene(s) MOI Clinical Features Comment Overlapping Distinguishing Muenke syndrome FGFR3 1 AD Unilateral/bilateral coronal synostosis In ... palpebral fissures Ptosis Ear abnormalities Interdigital webbing In Muenke syndrome: Higher prevalence of DD (35%, vs 5% in ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/muenke-syndrome</url><title >Muenke syndrome</title><other_names ><other_name >FGFR3-associated coronal ...
  6. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... the typical syndactyly. FGFR2 pathogenic variants are causative. Muenke syndrome is caused by FGFR3 pathogenic variant p.Pro250Arg. Muenke syndrome is characterized by uni-or bilateral synostosis of ...
  7. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... Hypertelorism Ocular proptosis Brachydactyly w/o syndactyly FGFR3 Muenke syndrome AD Craniosynostosis (unilateral or bilateral coronal) Mild maxillary ...
  8. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... types I and II) FGFR -related craniosynostosis , including Muenke syndrome and Crouzon syndrome with acanthosis nigricans Isolated familial ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000; 21 :23– ...
  9. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Miller syndrome: MedlinePlus Genetics (National Library of Medicine) Muenke syndrome: MedlinePlus Genetics (National Library of Medicine) Nager syndrome: ...
  10. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... syndrome w/acanthosis nigricans Isolated coronal synostosis (incl Muenke syndrome – isolated coronal synostosis caused by FGFR3 p.Pro250Arg) ...
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