Orphanet: Severe intellectual disability hypotonia strabismus coarse face planovalgus syndrome

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Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.

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Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

ORPHA:436141

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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