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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical 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