/severe intellectual disability-progressive spastic diplegia syndrome

severe intellectual disability-progressive spastic diplegia syndrome

Rare Disease

MONDO:0014035

Also Known As

MRD19autosomal dominant intellectual disability 19autosomal dominant mental retardation 19intellectual disability, autosomal dominant type 19mental retardation, autosomal dominant type 19neurodevelopmental disorder with spastic diplegia and visual defectssevere intellectual disability-progressive spastic diplegia syndromeCTNNB1-related intellectual disabilityautosomal dominant non-syndromic intellectual disability 19intellectual disability, autosomal dominant 19mental retardation, autosomal dominant 19

Definition

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.