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Marshall-Smith syndrome

ORPHA:561
Synonym(s) Accelerated skeletal maturation-peculiar facies-failure to thrive syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q87.3
OMIM
UMLS
  • C0265211
MeSH
  • C536026
GARD
MedDRA -

Summary

Disease definition

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

Epidemiology

The prevalence is unknown but around 30 cases have been reported in the literature.

Clinical description

The disorder associates several dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia. Clinical symptoms are severe with feeding difficulties, failure to thrive and a strong tendency to contract respiratory infections. X-rays show advanced bone age and short and conical phalanges.

Etiology

The cause of this disease remains unknown.

Diagnostic methods

Diagnosis depends on close examination of the clinical findings and X-ray examinations.

Differential diagnosis

Differential diagnosis should include Weaver syndrome and Sotos syndrome, which share similar skeletal findings but are not associated with recurrent respiratory infections or characteristic facies.

Genetic counseling

Sporadic occurrence of the syndrome suggests a de novo dominant mutation.

Management and treatment

There is no specific treatment for the syndrome. Malnutrition and respiratory infections should be treated symptomatically.

Prognosis

The prognosis is poor and the disorder is usually fatal within the first years of life. A few cases of prolonged survival have been reported in patients without respiratory complications and are associated with intellectual deficit.

Expert reviewer(s)

  • Pr Nicole PHILIP

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