Costello syndrome

Costello syndrome is a malformation that occurs due to mutations in the HRAS gene.

Children with Costello syndrome at birth are often normal in size, but delays in development. Special characteristic external characteristics are short stature, unusually flexible joints, folds of excess skin particularly on the hands (washing woman hands ) and feet, thick lips, Kräuselhaar, mental retardation, craniofacial, cardiac and dermatological abnormalities. Furthermore, it is still to premature aging and increased susceptibility to a variety of tumors.

Was first reported in 1977 by this disease by the New Zealand pediatrician Costello, the underlying gene was first discovered in 2005. The disease is explored as little.