Orphanet: Intellectual disability muscle weakness short stature facial dysmorphism syndrome

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Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.

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Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

ORPHA:457365

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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