- ... Search term GeneReviews Advanced Search Help < Prev Next > Apert Syndrome Synonym: Acrocephalosyndactyly Type I Tara L Wenger , MD, ... Estimated reading time: 32 minutes Summary Clinical characteristics. Apert syndrome is characterized by the presence of multisuture craniosynostosis, ...
- ... feet. Learn more about the gene associated with Apert syndrome FGFR2 Inheritance Apert syndrome is inherited in an ...
- 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 ...
- ... and development. Health Conditions Related to Genetic Changes Apert syndrome At least ten mutations in the FGFR2 gene have been found to cause Apert syndrome. This condition causes premature closure of the bones ...
- ... published></health-condition-summary><health-condition-summary ><name >Apert syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... Acrocephalopolysyndactyly type II, see Carpenter syndrome Acrocephalosyndactyly, see Apert syndrome Acrocephalosyndactyly III, see Saethre-Chotzen syndrome Acrocephalosyndactyly type ...
- ... Syndrome (For Parents) (Nemours Foundation) Guide to Understanding Apert Syndrome (Children's Craniofacial Association) - PDF Guide to Understanding Pfeiffer ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/apert-syndrome</url><title >Apert syndrome</title><other_names ><other_name >Acrocephalosyndactyly</other_name>< ...
- ... 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 ...
- ... Review Marfan Syndrome Dietz H. GeneReviews®. 1993 Review Apert Syndrome [GeneReviews ® . 1993] Review Apert Syndrome Wenger TL, Hing AV, Evans KN. GeneReviews®. 1993 ...
123 results
