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  1. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... Search term GeneReviews Advanced Search Help < Prev Next > Muenke Syndrome Paul Kruszka , MD, MPH, Myron Rolle , MD, Kristopher ... Estimated reading time: 26 minutes Summary Clinical characteristics. Muenke syndrome is characterized by considerable phenotypic variability; features may ...
  2. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... Normal hands Most w/normal intelligence Genu valgum Muenke syndrome Uni- or bicoronal craniosynostosis (85%) Variable midface retrusion & ... duplication analysis to detect intragenic deletions or duplications. Muenke syndrome. Targeted analysis of FGFR3 pathogenic variant p.Pro250Arg. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Muenke syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  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. 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– ...
  8. Craniofacial Abnormalities 
    https://medlineplus.gov/craniofacialabnormalities.html
    Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more. ... Craniofacial is ...
  9. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... and Raymond Wang. Initial Posting: January 4, 2024. Muenke Syndrome Paul Kruszka, Myron Rolle, Kristopher T Kahle, and Maximilian Muenke. Initial Posting: May 10, 2006; Last Update: March ...
  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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