Marshall-Smith syndrome

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Marshall-Smith syndrome

Synonyms: Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies airway obstructions failure to thrive developmental delay moderate to severe intellectual disability and characteristic facial features with macrocephaly prominent forehead shallow orbits proptosis and blue sclerae.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Marshall-Smith syndrome?

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