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115 results
  1. ... 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. ... always be performed. Genetic testing can confirm the diagnosis of Apert syndrome.
  3. ... only one side is affected. Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin ...
  4. ... affected.</html:p><html:p >Additional signs and symptoms of Apert syndrome can include unusually heavy sweating (hyperhidrosis), oily skin ...
  5. ... 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 ...
  6. ... 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.
  7. ... Acrocephalopolysyndactyly type II, see Carpenter syndrome Acrocephalosyndactyly, see Apert syndrome Acrocephalosyndactyly III, see Saethre-Chotzen syndrome Acrocephalosyndactyly type ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/apert-syndrome</url><title >Apert syndrome</title><other_names ><other_name >Acrocephalosyndactyly</other_name>< ...
  9. ... include Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, and Beare-Stevenson syndrome (see FGFR- Related Craniosynostosis ). ... fusion). FGFR1 and FGFR2 pathogenic variants are causative. Apert syndrome can usually be distinguished from ABS by the ...
  10. ... Review Marfan Syndrome Dietz H. GeneReviews®. 1993 Review Apert Syndrome [GeneReviews ® . 1993] Review Apert Syndrome Wenger TL, Hing AV, Evans KN. GeneReviews®. 1993 ...
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