The word, 'syndrome' refers to a collection of medical findings. At any one time, especially when children are young, they may not yet have developed all the clues that point toward a particular syndrome. For…

Other syndromes that may be considered in children before a correct diagnosis of Costello syndrome include: Mucopolysaccharidosis (storage disorders) Beckwith-Wiedemann syndrome (large at birth and a high risk of developing tumors) Simpson-Golabi-Behmel syndrome (large at…

Noonan syndrome (NS) and CFC syndrome have a number of similarities with CS. As children grow older and when they're adults, it's usually easier to tell them apart. Because the genes causing these syndromes belong…

Although physical features can suggest the diagnosis of Costello syndrome, CFC or Noonan syndrome, the clinical diagnosis requires molecular confirmation. Costello syndrome is defined by HRAS mutations, and HRAS mutations are associated only with Costello…