Vasquez Hurst Sotos syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Hypogonadism - gynecomastia - X-linked intellectual deficit

Overview

Vasquez-Hurst-Sotos syndrome is characterized by the association of X-linked intellectual deficit, hypogonadotropic hypogonadism, gynecomastia, facial dysmorphism, obesity, and short stature. This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the ATRX gene (Xq21.1).

Pathophysiology

Genetics

Transmission appears to be X-linked recessive.

Epidemiology and Demographics

It has been described in five males from four generations of one family.

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