ARID1B Syndrome. ARID1B-related intellectual disability. IN EDITION PROCESS
Incidence
Very few people with this syndrome have been reported. Has been confused with Coffin-Siris syndrome. The ARID1B gene is located in chromosome 6 (6q25.3).
Clinical Characteristics
Typical features of this syndrome are some difficulty with learning, delay in development and speech, feeding difficulties and short sight. Seizures are reported in 25% of patients, usually responding well to treatment. Short sight (myopia) is reported in 50% of patients, with 1/3 of them having severe myopia. Strabismus is also reported as well. Hearing problems are present in 15-20% of children with this condition, but only 5% have hearing loss in both ears. Mild hearing loss is present in most cases. Feeding problems are reported in 50% of cases, usually soon after birth and resolve within a few months. Frequent infections are reported in 1/3 of children, which cause is not clear. A small proportion of children may have non specific heart or kidney problems. Most children are of shorter stature than their peers. Most children walk after age 2 years (range 15 months to 5 years). Most children have moderate intellectual disability, some are severely affected and some have low-normal IQ, and some are able to read and write. Most children develop speech, 1/2 of them by age 4 years. Behavior is variable, usually friendly, but may become frustrated and develop aggressive behavior when unable to communicate. Some of the children develop autistic features.