Rare Diseases Types Costello Syndrome Symptoms and Treatment By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Mary Kugler, RN Medically reviewed by Medically reviewed by Cristian Zanartu, MD on April 26, 2020 twitter Cristian Zanartu, MD, is a licensed board-certified internist who has worked for over five years in pain and palliative medicine. Learn about our Medical Review Board Cristian Zanartu, MD on April 26, 2020 Print 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. Thanasis Zovoilis / Getty Images Symptoms Typical symptoms for Costello syndrome are: Difficulty gaining weight and growing after birth, which leads to short statureExcessive 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 nostrilsCharacteristic facial appearance such as a large head, low-set ears with large, thick lobes, thick lips, and/or wide nostrilsMental retardationThickened, dry skin on the hands and feet or arms and legs (hyperkeratosis)Abnormally flexible joints of the fingers. Some individuals may have the 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 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. The diagnosis of Costello syndrome is established with suggestive clinical findings and the identification of a pathogenic variant of the HRAS gene via molecular genetic testing. Treatment 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 receive a cardiology evaluation to look for heart defects and 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 also important, since the lifespan of an individual with Costello syndrome will be influenced by the presence of heart problems or cancerous tumors. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Gripp, K. W., et al. (2005). HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation. American Journal of Medical Genetics. Lin, A. E., et al. (2002). Further delineation of cardiac abnormalities in Costello syndrome. American Journal of Medical Genetics, 111(2), pp. 115-129. Pascual-Castroviego, I., et al. (2005). Costello syndrome: Presentation of a case with a follow-up of 35 years. Neurologia, 20(3), pp. 144-148. Costello Kids. About Costello syndrome. Moroni, I., et al. (2000). Costello syndrome: A cancer predisposing syndrome? Clin Dysmorphol, 9(4), pp. 265-268. National Organization for Rare Disorders. Costello Syndrome.