| 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. |
| 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. |
| 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. |
| 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. |
| Philip N, Sigaudy S |
| Journal of medical genetics. 1998 ; 35 (3) : 238-240. |
| PMID 9541110 |
| |
| 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 |
| |
| 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 |
| |
| Second case of bladder carcinoma in a patient with Costello syndrome. |
| Gripp KW, Scott CI Jr, Nicholson L, Figueroa TE |
| American journal of medical genetics. 2000 ; 90 (3) : 256-259. |
| PMID 10678668 |
| |
| 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: 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 |
| |
| Screening for cancer in children with Costello syndrome. |
| DeBaun MR |
| American journal of medical genetics. 2002 ; 108 (1) : 88-90. |
| PMID 11857557 |
| |
| 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 |
| |