Aplasia cutis-myopia syndrome

Aplasia Cutis-Myopia Syndrome is a rare genetic disorder characterized by the absence of a portion of skin (aplasia cutis) and nearsightedness (myopia). The syndrome is often associated with other physical abnormalities and developmental issues.

Aplasia Cutis

Aplasia cutis is a condition where a newborn is born with a portion of skin missing, usually on the scalp. The area of missing skin can vary in size and is often covered by a thin, transparent membrane. In some cases, the underlying structures such as the skull or brain may be exposed. The cause of aplasia cutis is not well understood, but it is thought to be due to a disruption in the development of the skin during fetal growth.

Myopia

Myopia, also known as nearsightedness, is a common vision condition where objects close to the viewer are seen clearly, while objects farther away appear blurry. Myopia occurs when the eyeball is too long or the cornea is too curved, causing light entering the eye to not focus correctly. This results in distant objects appearing blurry. Myopia is typically diagnosed in childhood and can progress gradually or rapidly, often stabilizing in early adulthood.

Symptoms

The primary symptoms of Aplasia Cutis-Myopia Syndrome are the presence of aplasia cutis and myopia. However, other symptoms may also be present, including microcephaly (small head size), intellectual disability, and seizures. Some individuals may also have congenital heart defects or abnormalities in other organs.

Causes

Aplasia Cutis-Myopia Syndrome is a genetic disorder, meaning it is caused by changes (mutations) in one or more genes. However, the specific genes associated with this syndrome are currently unknown.

Treatment

Treatment for Aplasia Cutis-Myopia Syndrome is symptomatic and supportive. This may include surgery to repair the area of missing skin, glasses or contact lenses to correct myopia, and various therapies to address developmental issues.

See Also

• Genetic disorder
• Congenital abnormality
• Vision disorder

NIH genetic and rare disease info

• NIH info on Aplasia cutis-myopia syndrome

Aplasia cutis-myopia syndrome is a rare disease.

Aplasia cutis-myopia syndrome Resources
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