Hallermann-Streiff-Francois syndrome of oculomandibulodyscephaly is apparent at birth due to multiple anomalies with wide phenotypic variability. The familial occurrence was described in siblings as well as in consecutive generations, but usually occurs sporadically. Sex ratio is normal. The determination is considered in fresh dominant mutation of postzygotic origin. Intelligence is normal but shortness of stature and facial dysmorphy may impair psychologic adjustment. The features are brachycephaly with frontal and pariental bossing, bird-like face due to beaked nose and hypoplastic mandibula, microphthalmia, cataract, delayed ossification and closure of the fontanells and sutures. Signal sign is hypoplasia of the rami mandibuli and anterior displacement of the temporomandibular joint. Stature is proporcional small, hypogenitalism in boys and muscle hypotonia with vertebral anomalies could be features. The patients should be control by ophthalmologist, stomatologist, ortopedist, during infancy respiratory and feeding problems are uncommon. Here is refered 5-year-old boy with mild manifestation of Hallermann-Streiff-Francois syndrome and is compared his fenotype with the features in other 5 patients.

        Key words: Hallermann-Streiff-Francois syndrome, oculomandibulodyscephaly, short proportional stature, normal inteligence, fresh dominant mutation postzygotic