Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face. Children with Apert syndrome often have deformities of the hands and feet as well.
Apert syndrome can be passed down through families (inherited) as an autosomal dominant trait. This means that only one parent needs to pass on the faulty gene for a child to have the condition.
Most cases may occur without a known family history.
Apert syndrome is caused by one of two changes to the FGFR2 gene. This gene defect causes some of the bony sutures of the skull to close too early. This condition is called craniosynostosis.
Several other syndromes can lead to a similar appearance of the face and head, but do not include the severe hand and foot features of Apert syndrome. These similar syndromes include:
Treatment consists of surgery to correct abnormal bone growth of the skull, as well as for the fusion of the fingers and toes. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center.
A hearing specialist should be consulted if there are hearing problems.
Cassio Amaral-Raposo is in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Apert Syndrome. They are also highly rated in 21 other conditions, according to our data. Their top areas of expertise are Craniofrontonasal Dysplasia, Syndactyly, Acromicric Dysplasia, and Pfeiffer Syndrome.
Antonio Forte is a Plastic Surgeon in Jacksonville, Florida. Dr. Forte has been practicing medicine for over 16 years and is rated as a Distinguished doctor by MediFind in the treatment of Apert Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Syndactyly, Acrocephalopolydactyly, Saethre-Chotzen Syndrome, and Pfeiffer Syndrome. He is licensed to treat patients in Minnesota and Florida. Dr. Forte is currently accepting new patients.
Nivaldo Alonso is in Bauru, Brazil. Alonso is rated as a Distinguished expert by MediFind in the treatment of Apert Syndrome. They are also highly rated in 20 other conditions, according to our data. Their top areas of expertise are Acrocephalopolydactyly, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, and Apert Syndrome.
Children's Craniofacial Association: ccakids.org
Contact your provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.
Genetic counseling may be helpful if you have a family history of this disorder and are planning to become pregnant. Your provider can test your baby for this disease during pregnancy.
Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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