Синдром врожденной катаракты-микроцефалии-простого пламенеющего невуса-тяжелой умственной отсталости

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are also present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, and short philtrum, among others. Brain imaging may show thin corpus callosum or cerebral atrophy.