Mucopolysaccharidosis VII

About Mucopolysaccharidosis VII

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals. The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head , a buildup of fluid in the brain, distinctive-looking facial features that are described as “”coarse,”” and a large tongue. Affected individuals also frequently develop an enlarged liver and spleen, heart valve abnormalities, and umbilical hernia or lower abdomen hernia. The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and sleep apnea. The eye’s cornea becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.  MPS VII is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis. MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Other names for this condition include: beta-glucuronidase deficiency, GUSB deficiency, MPS VII, Mucopolysaccharidosis 7, and Sly Syndrome.