CATIFA syndrome, caused by changes in the RIC1 gene, leads to a variety of symptoms, as seen in the eight known and reported cases so far in the medical literature. These symptoms include distinctive facial features, such as a longer face, a short, broad nose that turns upwards, and a long space between the nose and mouth. Some might also have a split in their lip or roof of the mouth. Dental problems are common too, including issues with how teeth grow and tooth decay.
People with CATIFA syndrome often experience intellectual disability leading to difficulties with learning, thinking, and speaking. Some children may also have ADHD, making it hard for them to focus or sit still. Vision problems are also common, including poor vision or crossed eyes. Additionally, children with CATIFA syndrome might have trouble sleeping, asthma, smaller ears, and difficulties walking steadily.
RIC1