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Costello Syndrome (Costello's Syndrome) Print E-mail

Dr. Kennedy Costello syndrome is a rare (around 250 cases world-wide as of this writing) disorder that affects multiple organ systems of the body. Costello syndrome is characterized by growth delays after birth leading to short stature, loose skin on the neck, palms of the hands, fingers, and soles of the feet, development of benign growths (papillomata) around the mouth and nostrils, mental retardation, and characteristic facial appearance. Other physical features may include the development of dry hardened skin on the palms of the hands and the soles of the feet, deep creases on the palms and soles, hyper flexibility of the fingers (hyperextensible). There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle (cardiommegaly). Characteristic craniofacial features may include an abnormally large head (macrocephaly), low-set ears with large, thick lobes, unusually thick lips, and abnormally wide nostril. Most cases of Costello syndrome are isolated with no other affected family members. Mutations in the HRAS gene cause Costello syndrome. The HRAS gene provides instructions for making a protein that helps control cell growth and division. Costello syndrome is inherited in an autosomal dominant manner - one copy of the altered gene is sufficient to cause the disorder. However, almost all cases have resulted from new mutations and occur in people with no history of the disorder in their families.

The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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