Hypertelorism Familial

Hypertelorism (hypertelorism, Oguzki-Dijhjaan syndrome, Greek hyper - above-, above + telos - end + -ismus - suffix meaning: having the property of something, relating to something; synonym: telescopic, telescopic, diffusion, diffuse -telescopic) or hypertelism is a rare hereditary disease characterized by high growth of the nose, hypertelorism and sometimes an intermediate palatal relief between the orbit and the upper jaw, pareidolia without light effects and atrophy of the optic nerves, binocular vision is normal. Hypertelorism is inherited in an autosomal recessive manner, and the main clinical signs appear in early childhood and worsen in old age. The outer ear is usually hyperteloric and is considered hypertelorism.

A tall, thin and slightly curved nose with downward-pointing nostrils defining a pseudotrachea (an air shadow underneath). The bridge of the nose is wide, sometimes with curvature; Noah's anomaly occurs, in which the angle of the nasal bridge is more than 90 degrees. In patients with hypertelorism, bilateral hypertelorism is observed with protrusion of the eye orbits, changes in the shape of the palpebral fissure, its smoothing, and mild ptosis. The severity of each of these signs is very different, so children and adults with this anomaly can be divided according to the severity of hypertelorism. About a third of all cases occur with a high degree of severity of the disease.