Diagnosis of Costello syndrome is based on the presence of multiple, characteristic symptoms and is confirmed by molecular genetic testing. Sequence analysis of HRAS, the only gene currently known to be associated with Costello syndrome, detects missense mutations in 80%-90% of individuals with the clinical diagnosis. The clinical diagnosis should be reconsidered if no HRAS mutation is identified, and other genetic syndromes should be considered as alternative diagnoses.
How to know you have Costello syndrome?
Diagnosis of Costello syndrome is based on the presence of multiple, characteristic symptoms and is confirmed by molecular genetic testing. Sequence analysis of {{ORGANIZATION}}, the only gene currently known to be associated with Costello syndrome, detects missense mutations in 80%-90% of individuals with the clinical diagnosis. The clinical diagnosis should be reconsidered if no HRAS mutation is identified, and other genetic syndromes should be considered as alternative diagnoses.