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Phenotype and natural history in Marshall-Smith syndrome

Adam C Shaw1, Inge D C van Balkom, Mislen Bauer

  • 1Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK. a.shaw@ich.ucl.ac.uk

American Journal of Medical Genetics. Part A
|October 16, 2010
PubMed

Insights

Marshall-Smith syndrome (MSS) is a rare genetic disorder. This study expands knowledge of MSS clinical features and natural history, using an online wiki to aid rare disease research.

Area of Science:

  • Genetics
  • Rare Diseases
  • Syndromology

Background:

  • Marshall-Smith syndrome (MSS) is a rare disorder with an unknown cause, affecting fewer than 50 individuals globally.
  • Previous understanding of MSS clinical presentation and progression is limited.

Observation:

  • This study presents 15 new MSS cases and updates 4 previously reported cases, totaling a significant cohort for analysis.
  • Phenotypic data was collected and shared internationally via an online wiki, a novel approach for rare disease research.
  • Key clinical features include developmental delay, unique facial characteristics, skeletal abnormalities, and respiratory compromise.

Findings:

  • The study delineates the phenotype and natural history of Marshall-Smith syndrome with expanded detail.
  • Common findings include moderate to severe developmental delay, absent/limited speech, behavioral issues, dysharmonic bone maturation, respiratory compromise, short stature, and kyphoscoliosis.
  • Characteristic facial features include a high forehead, midface hypoplasia, proptosis, anteverted nares, and everted lips. Brain imaging may show corpus callosum hypoplasia.
  • While mortality from respiratory complications is high, airway support improves survival into adulthood. Array-CGH did not identify clinically relevant copy number variants in the tested cohort.

Implications:

  • This research significantly expands the understanding of Marshall-Smith syndrome's clinical spectrum and natural history.
  • The use of an online wiki demonstrates a valuable collaborative tool for rare disease research and data collection.
  • Improved characterization of MSS may lead to better diagnostic approaches and patient management strategies.

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