Severe intellectual disability-progressive spastic diplegia syndrome

Disease Overview

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.[9786][9787][9788][9789]

Synonyms

• CTNNB1 syndrome
• CTNNB1-related intellectual disability
• Intellectual disability, autosomal dominant 19