Lucas is a lovely little boy who lives in the UK with his parents, brother and sister. He is cheerful and inquisitive and has a great sense of humour. He is non-verbal and can be tricky at times but is learning to read basic words, improving his Makaton signing and has started enjoying long walks outdoors!

Born: 2011

Diagnosed: 2015

Variant type: de novo

Clinical features: short stature, severe learning disability, autism, non-verbal, cryptorchidism, strabismus (squint), long sightedness, previous hearing problems, diastasis recti (gap in abdominal muscles), delayed bone age