FaCD Online Syndrome Fact Sheet

Last updated: 13 Jan 2010

Name: Marshall-Smith syndrome

Mode of Inheritance: spor/de novo?

Tumor features (possible)

Wilms' tumor (nephroblastoma)

Non-tumor features

advanced bone age
developmental delay/mental deficiency/mental retardation
frontal bossing / prominent forehead
growth deficieny
micrognathia
nasal bridge, depressed
orbits, shallow

Non-tumor features (possible)

gingival hypertrophy

Comment

This disorder is characterised by the typical facial features, mental retardation, failure to thrive, respiratory difficulties and advanced bone age. The occurrence of nontraumatic fractures and other skeletal features lead Adam et al[1] to classify the disorder as an osteochondrodysplasia[1]. In a patient previously reported by Williams et al[2], Wilms' tumor occurred[3].

References

[1] Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH.Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.Am J Med Genet A. 2005 Aug 30;137(2):117-24.
[2] Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. Marshall-Smith syndrome: the expanding phenotype. J Med Genet. 1997 Oct;34(10):842-5.
[3] Ng A, Griffiths A, Cole T, Davison V, Griffiths M, Larkin S, Parkes SE, Mann JR, Grundy RG. Congenital abnormalities and clinical features associated with Wilms' tumour: a comprehensive study from a centre serving a large population.Eur J Cancer. 2007 Jun;43(9):1422-9.