FAQ Category: Comparison to other syndromes

My child was thought to have a storage disease before they diagnosed CS. I never understood what that meant. I mean, why should one syndrome look like another. Aren’t they different?

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…

What other syndromes can CS resemble? Can you list some?

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…

Can you tell me more about the syndromes that CS resembles most – Noonan and CFC syndromes?

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…

How do doctors tell the difference between CS and CFC and NS? Do they just look at the patients, or do blood tests?

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…