BRESEK syndrome

BRESEK syndrome is a complex condition that affects several parts of the body. It is characterized by a range of abnormalities that include brain anomalies, severe mental retardation, and ectodermal dysplasia. In many people with this condition, the brain does not develop as expected, which can lead to significant intellectual challenges. Ectodermal dysplasia refers to issues with the skin, hair, nails, and sometimes teeth, highlighting the involvement of tissues derived from the outer layer of the embryo. In addition to issues with brain development and ectodermal tissues, BRESEK syndrome is marked by skeletal deformities. These include vertebral anomalies, scoliosis (curved spine), and polydactyly, which is the presence of extra fingers or toes. There are also recognized ear and eye anomalies; for instance, maldeveloped ear and eye structures can result in hearing loss or visual complications such as small optic nerves. Kidney dysplasia or hypoplasia is another reported feature of this condition, meaning the kidneys may not form properly or are underdeveloped. Together, these features form the acronym BRESEK and help clinicians recognize the syndrome.

People with BRESEK syndrome often experience a combination of symptoms including brain anomalies that may lead to severe mental retardation. They can also show signs of ectodermal dysplasia, which affects the skin and other tissues derived from the outer embryonic layer. Other common signs include skeletal deformities such as abnormal vertebrae, scoliosis, and extra digits (polydactyly). Additionally, ear and eye anomalies – such as low-set and large ears with associated hearing loss, and abnormalities in the eyes like small optic nerves – are part of this syndrome. Kidney issues such as dysplasia or hypoplasia have also been reported.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.