De Morsier syndrome, also known as septo-optic dysplasia, is a rare congenital medical condition that affects brain development, causing vision problems, intellectual disabilities, and stunted growth. The cause is unknown, but faulty genes may play a role. Treatment can relieve symptoms, including optical solutions and hormone treatment.
Babies spend their time inside the womb developing their bodies, and sometimes, developmental issues can cause a baby to be born with a congenital medical condition. De Morsier syndrome is a rare type of this type of condition, and in this case, children have problems with certain areas of the brain developing. People with this condition have vision problems and may also have intellectual disabilities and grow to a shorter than normal height. De Morsier syndrome is commonly known as septo-optic dysplasia.
As of 2011, scientists don’t know exactly what causes de Morsier syndrome, although a minority appear to be the result of faulty genes. Only about one in 10,000 babies is born with this syndrome. The name De Morsier comes from the doctor who identified the symptoms as a specific syndrome. Some scientists think the syndrome is actually a collection of conditions that, while sharing the same symptoms, have a variety of causes.
Three main problems are associated with De Morsier syndrome. All people who have it have underdeveloped nerves that lead from the eyes to the brain. Since these nerves, called optic nerves, normally carry information from the eyes to the brain for interpretation, this means that those affected have vision problems in at least one eye. In addition to vision problems, people with the condition may tend to move their eyes from side to side in a manner called nystagmus.
Brain underdevelopment also extends to the support structures of the brain that keep the left and right hemispheres apart. Since De Morsier syndrome is a condition that varies in severity, this may not affect the person’s intelligence, but in some cases it does, and the person has an intellectual disability as a result. In addition to developing nerves and structures in the brain, a person with De Morsier syndrome may have an underdeveloped pituitary gland. This gland normally produces several hormones that are important for normal growth and development.
If an individual has an underdeveloped pituitary gland, they may have problems growing and may not reach a height that is within the normal range for their age. Reproductive development is also part of the role of pituitary hormones and this too can be affected. While the syndrome is not curable, there is treatment available that can relieve symptoms. Optical solutions that can improve vision include eye patches during development, and growth problems can be reduced with hormone treatment.
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