How to understand Apert Syndrome

Apert Syndrome is classified under a broad term known as craniofacial-limb anomalies. This genetic defect is inherited from a parent that has Apert in most cases, however, not necessarily. The syndrome is seen in about one newborn in 160,000 to 200,000.

Normal skulls of a newborn are made of many different plates that are not connected permanently but are held very loosely together. As the child grows the skull slowly grows together in order to form the adult skull. A child born with Apert Syndrome the plates have already fused together as they would as in an adult skull.

Characteristics

Apert Syndrome is characterized by certain malformations of the skull, the middle portion of the face, hands, and feet. The skull is fused earlier than normal which causes it to grow abnormally with the strongest appearance being seen from the middle of the eye to the upper jaw are which will be either sunken or will protrude. The fingers and toes are also fused together is different degrees.

Featured are described as

•  The middle portion of the face is retruded

•  Fingers are fused

•  Toes are fused

Other factors are present in some cases of Apert Syndrome patients; however, they may not be caused by Apert Syndrome.

The other factors include

•  Bicornate uterus

•  Dextrorotation

•  Ear infections

•  heart defects

•  Hydrocephalus

•  Increased incidence of eye injuries

•  Patent Ductus Arteriosus

•  Polycystic kidneys

•  Pulmonary Atresia

•  Pyloric stenosis

•  Sleep Apnea

  Severe acne

•  Tracheoesophageal Fistula

Treatment

Treatment must begin at birth. The most common treatment is various surgical procedures to correct some of the problems that are seen with Apert Syndrome.

One surgery can be performed to separate the fused skull bones, which will allow the head to grow properly. This type of procedure will need to be done in stages in order to keep up with the growing infant.

In order to correct the abnormality of the mid-face, a procedure known as Ilizarov is used. This will open the bones of the mid portion of the face to enable it to grow properly. This procedure will not be done at birth but sometime between the age of 6 and 11.

Surgery can also be performed on the fingers and toes in the majority of cases in order to make them appear more normal, however, the functioning ability will not be improved.