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Costello syndrome is a rare genetic disorder and affected individuals have characteristic facial features, poor growth, delayed development, and mental retardation. They also may have loose skin on the neck, hands and feet. They may develop growths around their mouth and nose that are very characteristic of this disorder. Some children also have heart problems and varying other signs and symptoms described below.
Costello syndrome is an extremely rare disorder. Only about 150 reports of Costello syndrome have been published in the medical literature worldwide. It is not clear how often the syndrome actually occurs or who is more likely to be affected by it. It appears to occur in both males and females equally.
The following are characteristic signs and symptoms associated with Costello syndrome and help make the diagnosis of this disorder. Some children may exhibit some or all of these findings with varying severity:
Developmental delay often associated with intellectual limitations.
Most cases are thought to occur from genetic changes in a gene named HRAS. This disorder is often caused by new gene mutations in an affected child and there is no previous family history of Costello syndrome. There have been cases where this disorder has been seen in families when one parent known to have Costello syndrome has passed it on to their child, autosomal dominant inheritance.
The diagnosis of Costello syndrome is based on the clinical history and the findings on physical examination of the characteristic features listed above. Genetic testing of the HRAS gene is available.
There is no specific treatment for Costello syndrome. Treatment focuses on the symptoms and severity of symptoms present. Surgery can be performed to repair the heart defects, and to remove the tumors that appear on the face. Children with difficulty in feeding and sustaining adequate weight should be seen by a nutritionist for advice on special diets and feeding techniques. Alternative methods can include feedings through a tube that goes from the nose to the stomach (nasogastric tube), or directly into the stomach (gastrostomy tube) or directly into the veins (TPN). Joint problems may be managed by orthopedic specialists and physical or occupational therapists. Early enrollment in infant and child programs to address the developmental delays can promote the child's highest potential in function and learning.
Children with Costello syndrome can lead a full life although they will have to contend with problems of growth, development and heart complications. These children do grow normally during puberty; however they will continue to be short due to the growth delay earlier on in childhood. Additionally, level of mental capability will determine future level of independence and self care, with some children being self sufficient while others will need life long supervision. Medically, the severity of heart conditions, if present, and the development of cancers in the skin tumors may need further care later on in life.
BC Health Guide:
A concise summary of Costello syndrome with links to other sources and resources for the family.