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132 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Apert Syndrome Synonym: Acrocephalosyndactyly Type I Tara L Wenger , MD, ... Estimated reading time: 35 minutes Summary Clinical characteristics. Apert syndrome is characterized by the presence of multisuture craniosynostosis, ...
  2. Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. ... shape of the head and face. Children with Apert syndrome often have deformities of the hands and feet ...
  3. ... Additional Craniofacial/ Airway Features Hands/Feet Neurologic Other Apert syndrome Multisuture craniosynostosis, typically incl coronal sutures Midface retrusion, ...
  4. ... published></health-condition-summary><health-condition-summary ><name >Apert syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  5. ... digits Malformed & fused phalanges Symphalangism Mandibular prognathism FGFR2 Apert syndrome Bilateral coronal synostosis Broad thumbs & great toes Widely ...
  6. ... Syndrome (For Parents) (Nemours Foundation) Guide to Understanding Apert Syndrome (Children's Craniofacial Association) - PDF Guide to Understanding Pfeiffer ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/apert-syndrome</url><title >Apert syndrome</title><other_names ><other_name >Acrocephalosyndactyly</other_name>< ...
  8. ... toes Medially deviated thumbs & great toes CHL FGFR2 Apert syndrome AD Multisuture craniosynostosis Moderate-to-severe midface retrusion ... Gene Locus Links Similar articles in PubMed Review Apert Syndrome. [GeneReviews(®). 1993] Review Apert Syndrome. Wenger TL, Hing ...
  9. ... FGFR -related craniosynostosis syndromes (e.g., Pfeiffer syndrome, Apert syndrome), in Saethre-Chotzen syndrome, and in Greig cephalopolysyndactyly ... Distinguishing from RSTS FGFR1 FGFR2 FGFR3 Pfeiffer syndrome & Apert syndrome (See FGFR -Related Craniosynostosis Syndromes Overview .) AD Broad/ ...
  10. ... 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 ...
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