Orphanet: Severe growth deficiency strabismus extensive dermal melanocytosis intellectual disability syndrome

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Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.

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Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

ORPHA:488627

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

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