Rare Diseases Types Costello Syndrome Symptoms and Treatment By Mary Kugler, RN 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 Updated on June 09, 2022 Medically reviewed by Steffini Stalos, DO Medically reviewed by Steffini Stalos, DO LinkedIn Twitter Steffini Stalos, DO is board-certified in Pathology and Lab Medicine. She is currently Chief Medical Officer of Blood Associates, a lab consultancy firm. Learn about our Medical Expert Board 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. Costello syndrome is caused by a mutation (abnormality) of the HRAS gene. Only about 350 reports of Costello syndrome have been published in 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 Most children with Costello syndrome have difficulty eating, gaining weight, and growing. Typical symptoms of 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)Noncancerous 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 restricted movement at the elbows or tightening of the tendon at the back of the ankle. Individuals with Costello syndrome may have heart defects or cardiomyopathy. There is a high incidence of tumor growth, both cancerous and noncancerous, associated with the syndrome as well. Diagnosis Similarly presenting conditions include Noonan Syndrome or cardiofaciocutaneous syndrome, which are also rare. The diagnosis of Costello syndrome is made based on clinical findings and the identification of a pathogenic variant of the HRAS gene via molecular genetic testing. Costello Syndrome is due to an autosomal dominant mutation in HRAS and should not be diagnosed unless this mutation is present. This mutation is believed to occur sporadically, which means that it is not inherited from the child's parents. Treatment There is no specific treatment for Costello syndrome, so medical care focuses on the effects and symptoms. It is recommended that all individuals with Costello syndrome have a cardiology evaluation to look for heart defects and heart disease. Physical therapy and occupational therapy can help an individual reach their developmental potential, physically and cognitively. Long-term monitoring for tumor growth, spine or orthopedic problems, and heart or blood pressure changes is also important. 3 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. Leoni C, Viscogliosi G, Tartaglia M, Aoki Y, Zampino G. Multidisciplinary management of Costello syndrome: Current perspectives. J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi:10.2147/JMDH.S291757 National Organization for Rare Disorders. Costello syndrome. Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi:10.1002/ajmg.a.61270 Additional Reading 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. By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. See Our Editorial Process Meet Our Medical Expert Board Share Feedback Was this page helpful? Thanks for your feedback! What is your feedback? Other Helpful Report an Error Submit