Costello syndrome

2002-04-01   Nicole Philip 

Département de Génétique médicale, Hôpital dEnfants de la Timone, 13385 Marseille Cedex5, France



Costello syndrome


Noonan-like syndrome with nasal papillomata


The vast majority of cases are sporadic. An increase in mean paternal age has been demonstrated, favouring the hypothesis of dominant de novo mutations, but a microdeletion is an alternative explanation.






3071 Costello syndrome




Phenotype and clinics

Costello syndrome is characterised by
  • Growth abnormalities: whereas new-born are often macrosomic and macrocephalic they exhibit severe feeding difficulties and failure to thrive during the first months of life, up to two years of age. After this marasmic period, growth velocity is restored but the final height is short.
  • Ectodermal abnormalities are characterised by loose and dark-coloured skin, and a predisposition to develop multiple papillomata, which when present are highly suggestive of the diagnosis.
  • Mental retardation is usually mild and most patients with CS have an happy, ongoing personality.
  • Heart defects are present in one third of patients, either structural defects, hypertrophic cardiomyopathy or dysarrythmia.
  • Neoplastic risk

    Patients with Costello syndrome are prone to develop both benign and malignant tumours. The risk of developing a cancer is up to 15%. Rhabdomyosarcoma, mostly of the embryonic subtype is the tumor the most frequently encountered in CS. Neuroblastomaand bladder cancer (very rare in children) have also been described in several patients.


    Symptomatic: surgery of congenital heart defects or tumors; tube feeding during the first months.


    Apart from mental retardation, the prognosis of patients with Costello syndrome depends mainly on the occurrence of cardiac and\/or tumoral complications.

    Genes involved and Proteins




    Pubmed IDLast YearTitleAuthors
    118575572002Screening for cancer in children with Costello syndrome.DeBaun MR et al
    104496561999Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.Franceschini P et al
    118575562002Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.Gripp KW et al
    97387311998Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.Johnson JP et al
    98636041998Costello syndrome: two cases with embryonal rhabdomyosarcoma.Kerr B et al
    110455822000Costello syndrome: a cancer predisposing syndrome?Moroni I et al
    95411101998Costello syndrome.Philip N et al
    106642222000Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.Sigaudy S et al
    99349871999Costello syndrome: report and review.van Eeghen AM et al