MediFind
Condition

Apert Syndrome

Symptoms, Doctors, Treatments, Research & More

Condition 101

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.

What are the alternative names for Apert Syndrome?

Acrocephalosyndactyly

What are the causes for 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.

Some 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 for 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

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.

What are the support groups for Apert Syndrome?

Children's Craniofacial Association: ccakids.org

When should I contact a medical professional for Apert Syndrome?

Call 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

REFERENCES

Goldstein JA, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018: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, Jobe MT. Congenital anomalies of the hand. In: Azar FM, Beaty JH, Canale ST, eds. Campbell's Operative Orthopaedics. 13th ed. Philadelphia, PA: Elsevier; 2017:chap 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. GeneReviews. 2011:11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Updated June 7, 2011. Accessed July 31, 2019.

Latest Research

Latest Advance
Study
  • Condition: Midface Hypoplasia and Malocclusion
  • Journal: Plastic and reconstructive surgery
  • Treatment Used: Simultaneous Le Fort III and Le Fort I Procedures
  • Number of Patients: 25
  • Published —
In this study, researchers evaluated the outcomes of undergoing simultaneous Le Fort III and Le Fort I procedures for the treatment of midface hypoplasia and malocclusion.
Latest Advance
Study
  • Condition: Children With Syndromic Craniosynostosis and Obstructive Sleep Apnea
  • Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
  • Treatment Used: Adenotonsillectomy
  • Number of Patients: 24
  • Published —
This review of the literature evaluated the effectiveness of adenotonsillectomy (operation to remove the tonsils) for the treatment of obstructive sleep apnea (OSA; breath repeatedly stop and start during sleep).

Clinical Trials

Clinical Trial
Diagnostic Test
  • Status: Recruiting
  • Study Type: Diagnostic Test
  • Participants: 600
  • Start Date: October 1, 2018
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age