Costello Syndrome: A Rare Genetic Condition Affecting Multiple Organs

Definition and Overview

Costello syndrome, also known as faciocutaneoskeletal syndrome (FCS) or CS, is a rare genetic disorder that affects multiple parts of the body, including the brain, bones, heart, stomach, muscles, kidneys, and skin. It is caused by activating germline mutations in the HRAS gene, which is expressed in various tissues and organs throughout the body.

Symptoms and Signs of Costello Syndrome

Signs and symptoms of Costello syndrome can vary widely, but they typically include developmental delay, distinctive facial features, loose or sagging skin, gastrointestinal issues, cardiac abnormalities, muscular hypotonia, intellectual disability, and hearing and vision problems.

Some of the common facial features associated with Costello syndrome include a coarse appearance, a prominent forehead, low-set ears, drooping eyelids, a broad nasal bridge, and thick lips.

Causes and Diagnosis

Costello syndrome is caused by a mutation in the HRAS gene, which encodes a protein that plays a crucial role in cell growth and differentiation. Mutations in this gene disrupt the normal functioning of HRAS and lead to the development of Costello syndrome.

Diagnosis of Costello syndrome typically involves a physical examination, a review of the patient's medical history, and genetic testing to confirm the presence of a mutation in the HRAS gene.

Treatment and Management

There is no cure for Costello syndrome, but early intervention and management can help improve the quality of life for affected individuals. Treatment may include speech and physical therapy, occupational therapy, cardiac monitoring, and educational support. In some cases, surgery may be necessary to address specific health issues, such as cardiac abnormalities or gastrointestinal problems.

Prognosis and Outlook

The prognosis for individuals with Costello syndrome varies depending on the severity of their symptoms. While there is no cure, early diagnosis and intervention can help maximize their potential and improve their overall health outcomes.

With proper care and support, individuals with Costello syndrome can live fulfilling lives and make significant contributions to their communities.