Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Vasquez Hurst Sotos syndrome
Introduction
Synonyms and keywords: Hypogonadism – gynecomastia – X-linked intellectual deficit
Overview
Overview
Vasquez-Hurst-Sotos syndrome is characterized by the association of X-linked intellectual deficit, hypogonadotropic hypogonadism, gynecomastia, facial dysmorphism, obesity, and short stature. [1]
Pathophysiology
Pathophysiology
Genetics
Transmission appears to be X-linked recessive.
This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the ATRX gene (Xq21.1).
Epidemiology and Demographics
Epidemiology and Demographics
It has been described in five males from four generations of one family.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S