Learn About Apert Syndrome

What is the definition of Apert Syndrome?

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.

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What are the alternative names for Apert Syndrome?

Acrocephalosyndactyly

What are the causes of Apert Syndrome?

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.

What are the symptoms of Apert Syndrome?

Symptoms include:

  • Early closure of sutures between bones of the skull, noted by ridging along sutures (craniosynostosis)
  • Frequent ear infections
  • Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
  • Hearing loss
  • Large or late-closing soft spot on a baby's skull
  • Possible, slow intellectual development (varies from person to person)
  • Prominent or bulging eyes
  • Severe under-development of the midface
  • Skeletal (limb) abnormalities
  • Short height
  • Webbing or fusion of the toes

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:

  • Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
  • Crouzon disease (craniofacial dysostosis)
  • Pfeiffer syndrome
  • Saethre-Chotzen syndrome
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What are the current treatments for Apert Syndrome?

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.

Who are the top Apert Syndrome Local Doctors?
Elite
Highly rated in
21
conditions

University Of Campinas

Campinas, RS, BR 

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.

Distinguished
Highly rated in
13
conditions
Plastic Surgery

Mayo Clinic

Mayo Clinic Hospital - FL

4500 San Pablo Rd S 
Jacksonville, FL 32224

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.

 
 
 
 
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Distinguished
Highly rated in
20
conditions

Universidade De São Paulo

Cirurgia Craniofacial Hrac Usp, Curso De Medicina 
Bauru, SP, BR 

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.

What are the support groups for Apert Syndrome?

Children's Craniofacial Association: ccakids.org

When should I contact a medical professional for Apert Syndrome?

Contact your provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.

How do I prevent Apert Syndrome?

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.

Syndactyly
What are the latest Apert Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
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What are the Latest Advances for Apert Syndrome?
Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.
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Syndromic Craniosynostosis: Unique Management Considerations.
Who are the sources who wrote this article ?

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.

What are the references for this article ?

Goldstein JA, Davit AJ, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 23.

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.

Mauck BM. Congenital anomalies of the hand. In: Azar FM, Beaty JH, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 80.