Costello Syndrome in Children

Costello syndrome is a very rare condition, which is believed to only affect 200 to 300 people in the entire world. Costello syndrome is present at birth and causes complications to numerous areas of the body. The first case of Costello disease in children was reported in New Zealand in 1977 when two children had similar physical and mental complications. They had many of the same growth patterns, physical appearance and behavioral problems.

Costello syndrome is caused from a mutated HRAS gene, which is responsible for controlling cell growth and division. With the mutated gene, cells grow and divide constantly, which can cause cancerous and non-cancerous tumor growths. Costello syndrome in children does not appear to be an inherited condition.

Symptoms of Costello Syndrome

In most cases, infants with Costello syndrome are born with a normal or slightly high birth weight. Costello syndrome is associated with causing decreased fetal movement and excessive fluid in the womb. As the child with Costello syndrome grows, they typically have a short stature and delayed bone age. While many children with this condition are born average or larger, as they develop, they generally have a difficult time gaining weight due to difficulty feeding and also maintain a short stature. Growth hormones are monitored for this reason.

Other symptoms of Costello syndrome include stretchy, loose skin around the palms, neck, soles of the feet, and fingers. There are often fleshy growths in the mouth and nose and facial distortion, such as wide nostrils and low set ears. Other common symptoms of Costello syndrome include curly hair, a broad mouth, thick lips and drooping of the upper eye lid. It is not uncommon for a child with Costello syndrome to have heart complications. Costello syndrome in children causes an increased risk for certain cancers, such as cancers of the muscle tissue, as well as learning disabilities.

Treatment for Costello Syndrome

Unfortunately, there is no cure for Costello syndrome in children. But, with the proper supportive care a future can look promising. There are many support groups available for those with this condition and their family members. Many of these support groups have educational courses for how to deal with feeding in early childhood to dealing with learning disabilities. Treatment also includes managing any symptoms that may occur. Common symptoms that are managed include heart problems to allow a child to live the fullest life possible. Common heart conditions that may require treatment include structural defects, rapid heartbeat and weakened heart muscle.

References:
"What is Costello Syndrome" NIH.gov
"What is it?" BBC