Endosteal sclerosis-cerebellar hypoplasia syndrome

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Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia endosteal sclerosis hypotonia ataxia mild to moderate developmental delay short stature hip dislocation and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly strabismus nystagmus optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

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://www.orphadata.org. Data version June 2024

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