If the Diagnosis is Costello Syndrome . .

Receiving the diagnosis that your newborn has a genetic disorder is devastating. I cannot imagine having such a horrendous thing happen, but when it does, knowing what to expect and information on the disorder is what you are desperate to find. You long for contact with other parents with a child who has the same disorder--someone to talk to, to ask questions of. Hopefully, this article will help explain Costello syndrome a bit, and give you some links to find out more information.

Costello syndrome is a very rare genetic condition. It's also known as Faciocutaneoskeletal Syndrome or FCS Syndrome. It is thought there are less than 200 cases that have been reported worldwide. The disorder is caused by a defect in the gene that provides instructions for making a protein that controls cell growth and division. In Costello syndrome, the cell growth remains permanently active and directs cells to grow and divide constantly. This overactive cell division can cause cancerous and non-cancerous tumors to develop.

Costello syndrome affects many parts of the body. There is delayed development and mental retardation along with distinctive facial features, loose folds of extra skin on the hands, neck, fingers and on the soles of the feet. Costello individuals also have abnormally deep creases on their palms and soles and unusually flexible joints of the fingers.

Distinctive craniofacial features include abnormally large heads, low-set ears with unusually large, thick ear lobes, unusually thick lips, and abnormally wide nostrils

Heart abnormalities are common caused from the heart muscle being unusually thick. Infants with this disorder may be large at birth and have trouble feeding. They grow more slowly than other children. People with Costello syndrome are relatively short in stature later in life.

Beginning in early childhood, children with Costello syndrome have an increased risk of developing cancerous and non-cancerous tumors. Small growths called papillomas are the most common non-cancerous tumors seen. These tumors usually develop around the mouth, nose, and near the anus

Most cases of Costello syndrome are isolated with no other family members affected. The exact cause of this syndrome is unknown. Diagnosis is based on the physical appearance of the child as well as other symptoms that may be present.

Since there is no specific treatment for Costello syndrome, the medical care is based on the presenting symptoms. All patients with Costello Syndrome should receive a cardiac evaluation since cardiac involvement is so common. Physical and occupational therapy should be implemented so the child can reach his developmental potential. Tumor growth must be monitored closely throughout the individual's lifetime as well as spine and orthopedic problems. Blood pressure also must be monitored for sudden changes.

The lifespan of a person with Costello syndrome is influenced by the presence of heart problems or tumors that are cancerous. Healthy individuals with no medical complications should have a normal lifespan.

Since this is a very rare condition, it is extremely important for parents to find other families who have a child affected with Costello Syndrome for support and networking. One such place to do this is through the Costello Syndrome Support Group on the Internet at: http://www.costellokids.org.uk/

The link is also listed below.