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131 results
  1. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... anomalies of the genitourinary tract. Diagnosis/testing. The diagnosis of Apert syndrome is established in a proband with classic clinical ... also occur after birth. Establishing the Diagnosis The diagnosis of Apert syndrome is established in a proband with: Classic clinical ...
  2. Apert syndrome 
    https://medlineplus.gov/ency/article/001581.htm
    ... always be performed. Genetic testing can confirm the diagnosis of Apert syndrome.
  3. Apert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/apert-syndrome
    ... only one side is affected. Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... affected.</html:p><html:p >Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin ...
  5. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... Many adults with Crouzon syndrome and some with Apert syndrome are fully independent, though some individuals have physical or cognitive limitations that require assistance. Differential Diagnosis Craniosynostosis can be primary or secondary. In primary ...
  6. FGFR2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fgfr2
    ... hearing and vision problems, and other signs and symptoms. More than 98 percent of cases of Apert syndrome are caused by one of two mutations in ...
  7. Craniosynostosis 
    https://medlineplus.gov/ency/article/001590.htm
    ... Genetic disorders commonly linked to craniosynostosis include Crouzon, Apert, Carpenter, Saethre-Chotzen, and Pfeiffer syndromes. However, most children with craniosynostosis are otherwise healthy and have normal intelligence.
  8. Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1526
    ... FGFR -related craniosynostosis syndromes (e.g., Pfeiffer syndrome, Apert syndrome), in ... of Rubinstein-Taybi Syndrome View in own window ...
  9. Genetic Conditions 
    https://medlineplus.gov/genetics/condition
    ... Acrocephalopolysyndactyly type II, see Carpenter syndrome Acrocephalosyndactyly, see Apert syndrome Acrocephalosyndactyly III, see Saethre-Chotzen syndrome Acrocephalosyndactyly type ...
  10. Muenke Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1415
    ... digits Malformed & fused phalanges Symphalangism Mandibular prognathism FGFR2 Apert syndrome Bilateral coronal synostosis Broad thumbs & great toes Widely ...
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