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
CTNNB1