- Acrocephalo-syndactyly type 1
- ACS 1
- Apert-Crouzon disease
- Syndactylic oxycephaly
Your QuestionCan Apert syndrome be diagnosed through clinical assessment (symptoms) alone or is genetic testing needed to confirm the diagnosis?
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Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Individuals with Apert syndrome have webbed or fused fingers and toes (syndactyly). The severity of the fusion varies. Less commonly, people with this condition have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome may include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).
Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on the following clinical findings:
- Turribrachycephalic skull shape (cone-shaped or towering skull) which is observable clinically and can be confirmed by skull radiograph or head CT examination;
- Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, beaked nose, underdeveloped jaw and shallow eye sockets;
- Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly.
While clinical findings are suggestive of Apert syndrome, molecular genetic testing can help to confirm the diagnosis. Fibroblast growth factor receptor type 2 (FGFR2) sequence analysis is highly sensitive for Apert syndrome. More than 98% of cases are caused by a specific mutation in the 7th exon of the gene encoding FGFR2. The remaining cases are due to another specific mutation in or near exon 9 of FGFR2.
GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Apert syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/apert-syndrome. Accessed 7/1/2011.
- Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. June 7, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1455/#craniosynostosis.Management. Accessed 7/25/2014.
- Lajeunie E. Apert syndrome. Orphanet. November 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=87. Accessed 7/1/2011.
- Chen H. Apert Syndrome Workup. eMedicine. September 2009; http://emedicine.medscape.com/article/941723-workup. Accessed 7/1/2011.