Walker warburg syndrome

Walker Warburg syndrome is a type of congenital muscular dystrophy (CMD). Walker Warburg is the most severe type of CMD, affecting the muscles, eyes, and brain. It is also known as HARD ± E syndrome, which stands for hydrocephalus (an abnormal increase in the amount of cerebrospinal fluid within the cranial cavity), agyria (the condition of having a smooth cerebrum without convolutions), retina (abnormalities of the sensory membrane of the eye), dysplasia (abnormal growth or development of organs or cells in the body), and (if present) encephalocele (hernia of the brain). Walker Warburg syndrome is an autosomal recessive disorder, but at present there is no clear genetic linkage.


 


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