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Experts say the most common genetic disorders result from DNA mutations in genes inherited from our parents. They classify these issues as chromosomal, complex (a.k.a. multifactorial), and single-gene (a.k.a. monogenic).
Chromosomal disorders target the structures that hold genes within each cell. Some prime examples are Down syndrome, autism spectrum disorder, and Klinefelter syndrome, in which assigned males at birth have an extra X chromosome.
Complex/multifactorial genetic disorders are a byproduct of gene mutations from environmental factors such as chemical exposure, as well as the use of substances like tobacco and alcohol. Arthritis, late-onset Alzheimer’s disease, diabetes, and migraines fall under this category.
As the name suggests, monogenic disorders result from a mutation in one gene. Some examples are sickle cell disease, cystic fibrosis, congenital deafness, and muscular dystrophy.
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However, there are much more special cases, like Marfan syndrome. On the surface, it looks like a person with a lanky frame and a narrow facial structure. However, it is a result of a severe, incurable chronic disorder.
Marfan syndrome affects the body’s connective tissues, causing the people stricken with it to have unusually long limbs. While it may seem harmless, this condition may cause life-threatening issues like aortic aneurysms because it also affects the heart and blood vessels.
Doctors usually prescribe blood pressure medications to patients with Marfan syndrome to alleviate the pressure on the aorta. In some cases, people with this condition must undergo preventive surgery.
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If you’ve seen a person with cat-like eyes or pupils shaped like keyholes, they are likely suffering from coloboma. This hereditary disease may affect one or both eyes and cause various symptoms, from light sensitivity to complete vision loss.
Coloboma can develop in various parts of the eye, from the iris to the lens, the retina, and the optic nerve. According to the American Academy of Ophthalmology, the disease can begin as early as infancy and requires immediate evaluation.
However, like Marfan syndrome, coloboma has no cure. Ophthalmologists usually require their patients to wear colored contact lenses to make their irises appear rounder. They may also prescribe low-vision devices, like side shields for eyeglasses, to control light reflection.
