What is it?

Apert syndrome, is a rare genetic disorder that affects the development of the skull, face, hands, and feet. It is caused by a mutation in the FGFR2 gene, which is involved in the development of bone and tissue.

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Additional names

This group contains additional names:
- Acrocephalosyndactyly type 1

Signs & symptoms

Symptoms of Apert syndrome usually become noticeable in infancy, and may include:
* Abnormal head shape (craniosynostosis), which can cause a high forehead, a sunken appearance of the mid-face, and a beaked nose.
* Fused fingers and toes (syndactyly), which can cause the hands and feet to look like mittens or flippers.
* Dental problems, such as crowded teeth, a small upper jaw, and an underbite.
* Vision and hearing problems, such as nearsightedness, farsightedness, and conductive hearing loss.


Apert syndrome is typically diagnosed through a combination of physical examination, imaging tests, and genetic testing.
During a physical examination, a healthcare provider may look for characteristic features of Apert syndrome, such as craniosynostosis (abnormal head shape), syndactyly (fused fingers and toes), and other facial and skeletal abnormalities.
Imaging tests, such as X-rays, CT scans, or MRI scans, may be used to further evaluate the skull, face, hands, and feet and to help plan for surgical interventions.
Genetic testing can confirm the diagnosis of Apert syndrome. This typically involves testing for mutations in the FGFR2 gene, which is known to cause the disorder.
In some cases, prenatal diagnosis may be possible through prenatal genetic testing, such as chorionic villus sampling (CVS) or amniocentesis.


The treatment for Apert syndrome depends on the severity and specific symptoms of the individual. A multidisciplinary team of healthcare providers may be involved in the care of someone with Apert syndrome, including a craniofacial surgeon, an orthodontist, a speech therapist, an audiologist, and others. possible treatments for Apert syndrome:
* Cranial surgery: Craniosynostosis, which is a characteristic feature of Apert syndrome, can be treated with surgery to correct the abnormal head shape and relieve pressure on the brain. Multiple surgeries may be needed over time to address ongoing skull growth.
* Hand and foot surgery: Syndactyly, or fused fingers and toes, can be corrected with surgery to separate the digits and improve hand and foot function.
* Orthodontic treatment: Dental problems, such as a small upper jaw or an underbite, can be corrected with orthodontic treatment, such as braces or orthognathic surgery.
* Speech therapy: Children with Apert syndrome may benefit from speech therapy to address speech and language delays or difficulties.
* Hearing aids: Some children with Apert syndrome may have hearing loss, which can be managed with hearing aids or other assistive devices.
* Vision correction: Many individuals with Apert syndrome have vision problems, such as nearsightedness or farsightedness, that can be corrected with glasses or contact lenses.

In addition to medical treatments, individuals with Apert syndrome may benefit from supportive care and interventions, such as physical therapy, occupational therapy, and counseling. It's important to work closely with healthcare providers to develop an individualized treatment plan and provide ongoing care and support.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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