Apert Syndrome

Introduction
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.

Epidemiology
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.

Causes
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

Treatment Strategies
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:

1. Surgery
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.

Alternative Treatment
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.

Conclusion
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.


References
1. Spruijt B, Rijken BF, Joosten KF, et al. Atypical presentation of a newborn with Apert syndrome. Childs Nerv Syst. 2014 Nov 30. [Epub ahead of print]

2. Liu C, Cui Y, Luan J, et al. The molecular and cellular basis of Apert syndrome. Intractable Rare Dis Res. 2013 Nov;2(4):115-22.

3. Stark Z, McGillivray G, Sampson A, et al. Apert syndrome: temporal lobe abnormalities on fetal brain imaging. Prenat Diagn. 2014 Oct 9. doi: 10.1002/pd.4515. [Epub ahead of print].

4. Carpentier S, Schoenaers J, Carels C, Verdonck A. Cranio-maxillofacial, orthodontic and dental treatment in three patients with Apert syndrome. Eur Arch Paediatr Dent. 2014 Aug;15(4):281-9.

5. Landete P, Pérez-Ferrer P, Chiner E. Apert syndrome and sleep apnea. Arch Bronconeumol. 2013 Aug;49(8):364-5.

6. Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm. Plast Reconstr Surg. 2013 Jan;131(1):132-42.

 

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