SNP Shot: Genomic Insights

Lymphedema-distichiasis syndrome disrupts the normal operation of the lymphatic system, a crucial component of both the circulatory and immune systems. This system is responsible for producing and circulating fluids and immune cells throughout the body. Individuals with this syndrome experience lymphedema, characterized by swelling or puffiness, primarily in the legs and feet. A hallmark feature is distichiasis, the presence of additional eyelashes. The number of extra eyelashes can vary, ranging from a few to a complete extra row on both the upper and lower eyelids. These aberrant eyelashes emerge from the eyelid's inner lining rather than the edge. Contact with the eyeball can lead to corneal damage. Associated eye issues include astigmatism, causing blurred vision due to an irregular corneal curvature, and corneal scarring. Other health concerns linked to this syndrome are varicose veins (swollen and twisted veins), ptosis (drooping eyelids), heart defects, and cleft palate (an opening in the roof of the mouth).

Distichiasis is invariably present at birth in individuals with lymphedema-distichiasis syndrome. The onset of lymphedema is variable, typically beginning during puberty. Males tend to develop lymphedema earlier than females, but all affected individuals will eventually develop it by their forties.

Inheritance:

Lymphedema-distichiasis syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition.