Clinical Characteristics

Individuals with CTNNB1 syndrome are commonly found to have:
•    A variable degree of developmental delay/ intellectual disability
•    Behavioral problems including autistic features, ADHD, aggression, automutilation and sleep disturbances
•    Truncal hypotonia
•    Peripheral spasticity
•    Microcephaly
•    Various eye anomalies including strabismus, refractive errors and familial exudative vitreoretinopathy (FEVR)

Less common findings include:
•    Ataxia
•    Movement disorders, dystonia being the commonest
•    Feeding problems
•    Short stature and failure to thrive

Facial features often reported amongst affected individuals include:
•    Bulbous nasal tip
•    Small alae nasi
•    Long and flat philtrum
•    Hypotelorism
•    Low set ears
•    Fair hair and skin color
•    Sparse and fine hair