Walker-Warburg syndrome synonyms

Walker-Warburg syndrome, also known as HARD +/- E syndrome, is a rare and severe genetic disorder that primarily affects the development of the brain and muscles. It falls under the broader category of congenital muscular dystrophies and is characterized by a combination of brain abnormalities, muscle weakness, and eye malformations.

Walker-Warburg syndrome is often associated with a range of symptoms that can vary in severity from person to person. These symptoms may include:

• Brain abnormalities: Individuals with Walker-Warburg syndrome may have structural malformations in the brain, such as a smooth brain surface (lissencephaly), hydrocephalus (excessive fluid in the brain), or cerebellar hypoplasia (underdevelopment of the cerebellum).


• Muscle weakness: Affected individuals typically experience generalized muscle weakness, hypotonia (low muscle tone), and poor muscle coordination. These muscle abnormalities often lead to delayed motor milestones and difficulties with movement.


• Eye malformations: Walker-Warburg syndrome commonly presents with various eye abnormalities, including congenital cataracts, retinal detachment, glaucoma, and a condition called microphthalmia (abnormally small eyes).


• Other features: Additional features may include facial dysmorphism (unusual facial features), heart defects, kidney abnormalities, and respiratory difficulties.

Due to the complexity and severity of Walker-Warburg syndrome, it is typically diagnosed in infancy or early childhood. Genetic testing, brain imaging, and eye examinations are commonly used to confirm the diagnosis.

Unfortunately, there is currently no cure for Walker-Warburg syndrome. Treatment primarily focuses on managing the symptoms and providing supportive care. This may involve physical therapy, occupational therapy, and assistive devices to improve mobility and independence. Additionally, individuals with Walker-Warburg syndrome may require specialized medical interventions to address specific complications, such as surgical procedures for eye abnormalities or respiratory support for breathing difficulties.

Walker-Warburg syndrome is an extremely rare condition, and its prognosis can vary depending on the severity of symptoms and associated complications. It is important for affected individuals and their families to work closely with a team of healthcare professionals to ensure comprehensive care and support.