Clinical Characteristics

The main characteristics of Coffin Siris Syndrome, which are not present in all ARID1A patients, are intellectual disability, speech delay, feeding difficulties, absent or small nail(s) of the fifth finger and/or toe, excessive hair growth (hypertrichosis) and certain facial features (e.g. sparse scalp hair, flat nose, large lips). Other features can be hearing loss, visual impairment, a malformation of the heart or vessels or a malformation of the spine (scoliosis).