Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Costello syndrome

Written2002-04Nicole Philip
Département de Génétique médicale, Hôpital d'Enfants de la Timone, 13385 Marseille Cedex5, France

(Note : for Links provided by Atlas : click)


Other namesNoonan-like syndrome with nasal papillomata
Atlas_Id 10075
Genes implicated inHRAS  
Inheritance 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.


Note Costello syndrome is a multiple congenital anomalies/mental retardation syndrome characterised by severe growth abnormalities and a predisposition to develop childhood tumours, especially rhabdomyosarcomas.
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.
  • Treatment Symptomatic: surgery of congenital heart defects or tumors; tube feeding during the first months.
    Prognosis 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

    Note Unknown.


    Screening for cancer in children with Costello syndrome.
    DeBaun MR
    American journal of medical genetics. 2002 ; 108 (1) : 88-90.
    PMID 11857557
    Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.
    Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D
    American journal of medical genetics. 1999 ; 86 (2) : 174-179.
    PMID 10449656
    Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
    Gripp KW, Scott CI Jr, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH
    American journal of medical genetics. 2002 ; 108 (1) : 80-87.
    PMID 11857556
    Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.
    Johnson JP, Golabi M, Norton ME, Rosenblatt RM, Feldman GM, Yang SP, Hall BD, Fries MH, Carey JC
    The Journal of pediatrics. 1998 ; 133 (3) : 441-448.
    PMID 9738731
    Costello syndrome: two cases with embryonal rhabdomyosarcoma.
    Kerr B, Eden OB, Dandamudi R, Shannon N, Quarrell O, Emmerson A, Ladusans E, Gerrard M, Donnai D
    Journal of medical genetics. 1998 ; 35 (12) : 1036-1039.
    PMID 9863604
    Costello syndrome: a cancer predisposing syndrome?
    Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A
    Clinical dysmorphology. 2000 ; 9 (4) : 265-268.
    PMID 11045582
    Costello syndrome.
    Philip N, Sigaudy S
    Journal of medical genetics. 1998 ; 35 (3) : 238-240.
    PMID 9541110
    Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.
    Sigaudy S, Vittu G, David A, Vigneron J, Lacombe D, Moncla A, Flori E, Philip N
    European journal of pediatrics. 2000 ; 159 (3) : 139-142.
    PMID 10664222
    Costello syndrome: report and review.
    van Eeghen AM, van Gelderen I, Hennekam RC
    American journal of medical genetics. 1999 ; 82 (2) : 187-193.
    PMID 9934987


    This paper should be referenced as such :
    Philip, N
    Costello syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):242-243.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

    Genes BRAF CHST11

    External links

    OrphanetCostello syndrome
    Other databaseCostello syndrome (GARD)
    Genes implicated inHRAS   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Wed Jul 28 17:43:15 CEST 2021

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us