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Glossoptosis refers to downward displacement or retraction of the tongue that may occur secondary to abnormal smallness of the lower jaw (micrognathia). The craniofacial abnormalities associated with the disorder, such as small nostrils and glossoptosis, can cause obstruction of the upper airway, particularly during the newborn period and infancy.

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Nasal lipofilling has been used to treat the atrophy of the nasal skin, resulting in improvement in nasal skin color and texture. Due to such changes, the skin in these regions may appear unusually taut and thin, and regional blood vessels may seem unusually pronounced. Degenerative skin changes (atrophy) are also often present and largely limited to the scalp and nose. In addition, many people with this syndrome have very sparse hair (hypotrichosis), particularly of the scalp, eyelashes, eyebrows, beard, pubic hair, and hair under the arms. The underdevelopment of the jaw and nose may result in upper airway obstruction and breathing difficulties in young children. The nose is typically quite narrow and pointed with a narrow nasal bridge, small nostrils and underdeveloped nasal cartilage that tends to become more convex (beaked) with age. In addition, there is typically abnormal widening of the fibrous joints (sutures) between certain bones of the skull and delayed closure of the two “soft spots” (fontanelles) at the front and back of the cranium.Īffected individuals also often have a disproportionately small face a high, narrow roof of the mouth (palate) and/or a small lower jaw (micrognathia) with receding chin (retrognathia). In some cases, the head may also be relatively small (microcephaly) and the cheekbones may be underdeveloped (malar hypoplasia). Many affected infants have an unusually shaped skull, with abnormal shortness of the head (brachycephaly) and prominence of the forehead and/or sides of the skull (frontal and/or parietal bossing). In many cases, additional abnormalities are also present. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly) distinctive facial features ocular defects dental anomalies and/or proportionate short stature. The disorder was named for two eye doctors who later independently reported cases of the syndrome, recognizing it as a distinct disease entity.Īssociated symptoms and signs vary greatly in range and severity from case to case. Hallermann-Streiff syndrome was first described in the medical literature in 1893. In almost all cases, HSS has appeared to occur randomly for unknown reasons (sporadically), and this syndrome is thought to be the result of a new change to genetic material (mutation). Dental defects may include natal or neonatal teeth, delayed tooth eruption, enamel hypoplasia, absent permanent teeth (hypodontia or partial adontia), abnormal tooth development resulting in short roots and early loss of teeth, and/or improper alignment of teeth. Many affected individuals also have clouding of the lenses of the eyes at birth (congenital cataracts or corneal stromal opacities) unusually small eyes (microphthalmia) and/or other ocular abnormalities (glaucoma, retinal detachments). Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (dyscephaly) a small, underdeveloped lower jaw (hypoplastic mandible) a narrow, highly arched roof of the mouth (palate) and a thin, pinched, tapering nose.

Hallermann-Streiff syndrome (HSS) is a rare disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region sparse hair (hypotrichosis) eye abnormalities dental defects degenerative skin changes (atrophy), particularly in the scalp and nasal regions and proportionate short stature.

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