Costello Syndrome

Costello syndrome is a very rare disorder that affects multiple systems of the body, causing short stature, characteristic facial features, growths around the nose and mouth, and heart problems. The cause of Costello syndrome is not known, although genetic mutation is suspected. In 2005 researchers at the DuPont Hospital for Children in Delaware (U.S.) found gene mutations in the HRAS sequence were present in 82.5% of the 40 individuals with Costello syndrome they studied.

Only about 150 reports of Costello syndrome have been published in the worldwide medical literature, so it is not clear how often the syndrome actually occurs or who is more likely to be affected by it.

Typical symptoms for Costello syndrome are:

• difficulty gaining weight and growing after birth, which leads to short stature
• excessive loose skin on the neck, palms of the hands, fingers, and soles of the feet (cutis laxa)
• non-cancerous growths (papillomata) around the mouth and nostrils
• characteristic facial appearance such as large head, low-set ears with large, thick lobes, thick lips, and/or wide nostrils
• mental retardation
• thickened, dry skin on the hands and feet or arms and legs (hyperkeratosis)
• abnormally flexible joints of the fingers.

Some individuals may have restriction of movement at the elbows or tightening of the tendon at the back of the ankle. Individuals with Costello syndrome may have heart defects or heart disease (cardiomyopathy). There is a high incidence of tumor growth, both cancerous and non-cancerous, associated with the syndrome as well.

Diagnosis of Costello syndrome is based on the physical appearance of a child born with the disorder, as well as other symptoms that may be present. Most children with Costello syndrome have difficulty feeding, as well as gaining weight and growing, so this may suggest the diagnosis. In the future, genetic testing for known gene mutations associated with Costello syndrome might be used to confirm the diagnosis.

There is no specific treatment for Costello syndrome, so medical care focuses on the symptoms and disorders present. It is recommended that all individuals with Costello syndrome received a cardiology evaluation to look for heart defects and/or heart disease. Physical and occupational therapy can help an individual reach his or her developmental potential. Long-term monitoring for tumor growth, spine or orthopedic problems, and heart or blood pressure changes is important. The lifespan of an individual with Costello syndrome will be influenced by the presence of heart problems or cancerous tumors, so if healthy, individuals with the syndrome can have a normal lifespan.