Clinical Characteristics for Families

Individuals with CTNNB1 syndrome are commonly found to have:
•    A variable degree of developmental delay/ intellectual disability
•    Behavioural problems including autistic features, ADHD, aggression, automutilation and sleep disturbances
•    Floppiness and low muscle tone in the trunk
•    Stiff limbs
•    Small head
•    Various eye anomalies including strabismus, refractive errors and familial exudative vitreoretinopathy (FEVR)

Less common findings include:
•    Unsteadiness
•    Difficulty in muscle coordination and abnormal posture
•    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
•    Eyes are positioned close together (Hypotelorism)
•    Ears set low on the head
•    Fair hair and skin color
•    Sparse and fine hair