Brachmann De Lange Syndrome

Brachmann De Lange Syndrome is a rare genetic disorder.

Overview

Brachmann De Lange Syndrome, also known as CdLS (Cornelia de Lange syndrome), is a congenital genetic disorder characterized by physical, cognitive, and developmental abnormalities.

Causes

Brachmann De Lange Syndrome is primarily caused by mutations in specific genes, such as NIPBL, SMC1A, SMC3, RAD21, and HDAC8.

Symptoms

The disorder is associated with various physical characteristics including distinct facial features, growth deficiencies, limb abnormalities, and gastrointestinal problems. Individuals with Brachmann De Lange Syndrome may also experience intellectual disabilities, behavioral issues, and speech delays.

Treatment

As there is no cure for Brachmann De Lange Syndrome, treatment focuses on managing the symptoms and providing support. This may include early intervention therapies, specialized education, medical care, and counseling for both the individual and their family.

Prognosis

The prognosis for individuals with Brachmann De Lange Syndrome varies greatly depending on the severity of the symptoms. With appropriate care and support, many individuals can live fulfilling lives, although they may require lifelong assistance and support.