Which are the symptoms of Costello Syndrome?

Costello Syndrome is a rare genetic disorder that affects various parts of the body. It is characterized by distinctive facial features, developmental delays, and an increased risk of certain health conditions. The symptoms of Costello Syndrome can vary in severity from person to person.

Facial features: Individuals with Costello Syndrome often have unique facial characteristics. These may include a large mouth with full lips, a wide nose with a broad nasal bridge, low-set ears, and thick eyebrows. The facial appearance may change over time, becoming more prominent during infancy and early childhood.

Developmental delays: Children with Costello Syndrome typically experience delays in reaching developmental milestones. This can include delays in sitting, crawling, walking, and talking. Intellectual disability is also common, ranging from mild to moderate in severity.

Growth abnormalities: Many individuals with Costello Syndrome have slow growth during infancy and childhood. They may be shorter in stature compared to their peers and have difficulty gaining weight. However, some individuals may experience a growth spurt during puberty.

Heart problems: Cardiac abnormalities are a significant concern in Costello Syndrome. The most common heart condition associated with this syndrome is hypertrophic cardiomyopathy, which is characterized by the thickening of the heart muscle. This can lead to various cardiac complications, including arrhythmias and heart failure.

Gastrointestinal issues: Costello Syndrome can affect the gastrointestinal system, leading to feeding difficulties, gastroesophageal reflux disease (GERD), and constipation. These issues may require medical intervention and dietary modifications to ensure adequate nutrition and prevent complications.

Orthopedic problems: Some individuals with Costello Syndrome may have orthopedic issues, such as joint hypermobility, scoliosis (abnormal curvature of the spine), and tight Achilles tendons. These conditions can impact mobility and may require orthopedic interventions or physical therapy.

Increased cancer risk: Individuals with Costello Syndrome have an increased risk of developing certain types of cancer, particularly rhabdomyosarcoma (a type of soft tissue cancer) and neuroblastoma (a type of cancer that affects nerve tissue). Regular cancer screenings and close monitoring are essential for early detection and treatment.

Other features: Additional features of Costello Syndrome may include soft, loose skin, thickened palms and soles, curly or sparse hair, vision problems (such as nearsightedness or strabismus), hearing loss, and immune system abnormalities.

It is important to note that not all individuals with Costello Syndrome will exhibit all of these symptoms, and the severity can vary. Early diagnosis and ongoing medical management are crucial in optimizing the quality of life for individuals with Costello Syndrome.