Hallermann–Streiff syndrome

The Hallermann - Streiff syndrome ( HSS short, other names: bird disease, Hallermann - Streiff -Francois syndrome, English: Oculomandibulodyscephaly with hypotrichosis, Oculomandibulofacial Syndrome) is a rare, sporadically occurring malformation syndrome in humans. In the literature, only about one hundred cases have been described.

Affected people have among other peculiarities, a proportioned dwarfism, a special face shape with a very small, curved beak-like nose and a small lower jaw, congenital eye malformation with too small eyeball and clouding of the lens (cataract ), and thinning hair. The tongue of people with HSS usually develops to a normal size, so that it is disproportionately large relative to the small body. This often leads to problems in feeding and breathing. Due to the malformed eyes occurs mostly strong visual impairment or even blindness. The HSS may be accompanied by a cognitive disability.

The genetic cause of the HSS is not known. Due to the rarity of the HSS consist scientific studies on this subject mostly from comparisons of individual cases.