Costello syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Costello syndrome. This is caused by mutations in the HRAS gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the HRAS gene
Cranial features
Locked: subscribe to see this section.
Dermatological features
Locked: subscribe to see this section.
Cardiac features
Locked: subscribe to see this section.
Cancer risk
Locked: subscribe to see this section.
Posterior fossa features
Locked: subscribe to see this section.
Respiratory features
Locked: subscribe to see this section.
Other features
Locked: subscribe to see this section.
References
- Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43:833-842.
- Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007; 143A:799-807.
- Lloreda-Garcia JM, Pina-Molina JM, Fernández-Fructuoso JR. Deep palmar and plantar creases in Costello syndrome. J Pediatr 2018; 201:292.
- Girisha KM, Lewis LE, Phadke SR, Kutsche K. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet A 2010; 152A:2861-2864.
- Lin AE, Alexander ME, Colan SD, et al. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A 2011; 155A:486-507.
- And 11 more. Subscribe to see the full list
