Hypertelorismi

Hypertelorism is a rare congenital condition characterized by an abnormally increased distance between two paired anatomical structures, most commonly the eyes. The term originates from the Greek words *hyper* (meaning "excessive") and *telos* (meaning "distance"). In medical terminology, hypertelorism specifically refers to an interocular distance greater than 2.5 standard deviations above the mean for a given age, typically exceeding 37 millimeters in adults.

The condition can occur as an isolated finding or as part of a broader syndrome. Isolated hypertelorism may result from genetic mutations affecting craniofacial development, though the exact mechanisms are often unclear. When associated with other anomalies, it may be linked to genetic disorders such as Crouzon syndrome, Apert syndrome, or Pfeiffer syndrome, which involve abnormal skull and facial bone formation. Additionally, hypertelorism can be part of chromosomal abnormalities, such as trisomy 13 (Patau syndrome) or trisomy 18 (Edwards syndrome).

Diagnosis is typically made through clinical examination, measuring the distance between the inner corners of the eyes (inner canthal distance) and comparing it to standard reference values. Imaging studies, such as X-rays or CT scans, may be used to assess underlying skeletal abnormalities. Treatment is generally not required unless the condition causes functional or cosmetic concerns. In severe cases, surgical intervention may be considered to improve facial symmetry or correct structural issues.

Hypertelorism can present at birth or become apparent during early childhood as the skull and facial bones develop. The prognosis varies depending on whether the condition is isolated or part of a syndrome. Genetic counseling may be recommended for affected individuals and their families to understand inheritance patterns and associated risks. Research into the underlying genetic and developmental mechanisms continues to improve understanding and management of this condition.