Apert syndrome is a rare genetic condition, which is characterized by the abnormal skull development. The condition is most commonly diagnosed as infused sutures of the skull, bulging eyes that are usually tilted on the sides. Consequently, the whole shape of the face and the skull is distorted. Other anomalies include stunted growth of the jaws, cleft palate, and webbed fingers.
Apert syndrome is a rare genetic disorder; however, the prevalence of the condition is uniform in many communities, such as Native Americans, Caucasians, Africans, and European populations. Various studies have been conducted to study the prevalence of Apert syndrome in infants. The disease affects about < 5% of the total cases of craniosynostosis. Moreover, the rate of mortality is higher in patients with Apert syndrome as compared to the general population.
It is a genetic condition, which is passed from parents to offspring. The condition develops due to single gene mutation. The gene is responsible for the development and fusion of the skull sutures during growth and bone development. The condition is severe as only one parent needs to carry the defective gene for the offspring to have the Apert syndrome.
Symptoms Of Apert Syndrome
Mutation is the gene causes the skull bones to infuse together, thereby leading to the development of a condition known as craniosynostosis. This process, in turn, causes abnormal growth of the skull and face.
Some of the common symptoms associated with Apert syndrome are:
- Oblonged head, with a long forehead and side bones
- Sunken face and abnormal mass distribution
- Abnormal infusion of skull bones along the ridges
- Wide bulging eyes
- Poorly closed eyelids
- Loss of hearing
- Stunted overall growth
- Short stature
- Webbed toes and fingers
- Persistent ear infections
- Sleep apnea
Although there is no definite cure for Apert syndrome, various surgical and medical interventions have been considered to alleviate the symptoms associated with it. Some of the common treatment strategies are:
It is usually recommended in patients to correct the infused bones. However, the method is allowed in infants only, when the bones are still growing.
2. Strategies To Manage The Symptoms
- Cornea Protection
In order to improve sleep and manage closing of the eyelids, lubricants and eye drops are used. This prevents the dissipation of the cornea and relieves the patient from irritation.
- Sleep Apnea
Various methods have been used to diagnose the presence of sleep apnea. Consequently, methods are deployed to enhance sleep quality in these patients.
- Preventing Infections
In order to prevent sinus and upper respiratory infections, humidification and nasal decongestants are used.
Physical therapy is usually applied to restore lost function, improve movement, and prevent injury. This includes massage, electrical stimulation, exercises, and traction. However, the applicability of the therapy is limited and has no clinical evidence to support its nature.
Apert syndrome is a genetic condition, which is characterized by infusion of skull bones and bulging eyes. The condition is genetic and occurs due to mutation in a single gene. Various surgical and medical interventions are used to manage the symptoms associated with Apert syndrome.
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