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).
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Conductive hearing impairment||90%|
|Depressed nasal bridge||90%|
|Abnormality of the fontanelles or cranial sutures||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Aplasia/Hypoplasia of the thumb||50%|
|Convex nasal ridge||50%|
|Delayed eruption of teeth||50%|
|Vertebral segmentation defect||50%|
|Sensorineural hearing impairment||7.5%|
|Postaxial hand polydactyly||5%|
|Preaxial hand polydactyly||5%|
|Absent septum pellucidum||-|
|Agenesis of corpus callosum||-|
|Anomalous tracheal cartilage||-|
|Arnold-Chiari type I malformation||-|
|Autosomal dominant inheritance||-|
|Broad distal hallux||-|
|Broad distal phalanx of the thumb||-|
|Cervical C5/C6 vertebrae fusion||-|
|Chronic otitis media||-|
|Cutaneous finger syndactyly||-|
|Delayed cranial suture closure||-|
|Posterior fossa cyst||-|
|Synostosis of carpal bones||-|
|Ventricular septal defect||-|
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:
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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Can Apert syndrome be diagnosed through clinical assessment (symptoms) alone or is genetic testing needed to confirm the diagnosis? See answer