Is Costello Syndrome contagious?

Costello syndrome is a rare genetic disorder and is not contagious; it cannot be spread through touch, proximity, or any form of social contact. It is caused by a spontaneous genetic mutation and is not an infectious disease, meaning there is zero risk to family members, caregivers, or peers when interacting with someone who has the condition.

What causes Costello syndrome?

Costello syndrome is caused by a germline mutation in the HRAS gene. In the vast majority of cases, this mutation occurs sporadically (de novo), meaning it is not inherited from either parent. Because Costello syndrome is a result of a change in an individual's DNA at the time of conception, it is biologically impossible for it to be transmitted to another person through environmental or physical contact.

Why is there confusion about contagion?

Because Costello syndrome is rare—affecting an estimated 1 in 300,000 to 1 in 1.25 million people—the public is often unfamiliar with the condition. The physical characteristics associated with Costello syndrome, such as distinctive facial features, skin changes, or developmental delays, may lead uninformed individuals to wrongly assume the condition is an illness that can be "caught." It is important to emphasize that these traits are innate markers of the syndrome, not signs of an active infection.

How does Costello syndrome affect the body?

The HRAS gene mutation affects the RAS/MAPK pathway, which regulates cell division and growth. Common manifestations of Costello syndrome include:

• Failure to thrive and feeding difficulties in infancy


• Distinctive coarse facial features and macrocephaly


• Loose, soft skin with deep creases on the palms and soles


• Increased risk of certain benign and malignant tumors


• Developmental delays and intellectual disabilities

Next steps

• Consult a clinical geneticist to confirm a diagnosis through molecular genetic testing.


• Connect with the 13 members of the Costello syndrome community at DiseaseMaps.org for peer support.


• Work with a multidisciplinary team including cardiologists, endocrinologists, and dermatologists to manage symptoms.


• Educate school staff and community members that Costello syndrome is purely genetic and poses no health risk to others.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Costello Syndrome


• Orphanet: Costello Syndrome (ORPHA:207)


• OMIM (Online Mendelian Inheritance in Man): #218040 Costello Syndrome


• Costello Kids: Information for families and clinicians