Hallermann-Streiff syndrome (HSS) is a rare condition with characteristic features that are present at birth and become more apparent over time. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities. Other features include poor vision, a small upper airway, and short stature. HSS is diagnosed based on a physical examination that identifies the specific signs and symptoms that have been described in this condition. The cause of HSS is unknown and is thought to be due to a random genetic change. HSS is not thought to be inherited in families. Because this condition is so rare, little is known about how HSS changes over time. Problems with airway management and premature aging have been reported. Most people with HSS have normal intelligence. Treatment for HSS is based on the specific symptoms and may involve multiple surgeries.

Some of the most common features include:

• Short, broad head (brachycephaly) or small head (microcephaly)
• Prominent forehead and/or sides of the skull (frontal bossing)
• Small lower jaw (micrognathia)
• Clouding of the lenses of the eyes at birth (congenital cataracts)
• Unusually small eyes (microphthalmia)
• Absent, malformed, or improperly aligned teeth
• Sparse, thin hair (hypotrichosis)
• Skin atrophy
• Short stature

Because Hallermann-Streiff syndrome is so rare, not much is known about how this condition changes throughout life. Issues with premature aging and difficulty with airway managment have been reported. Most people with this condition have normal intelligence.

The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) genetic alteration (mutation).

Hallermann-Streiff syndrome does not appear to be inherited in families, although this remains unclear.

Hallermann-Streiff syndrome is diagnosed by a physical examination to look for specific symptoms and features, and by excluding other conditions. The facial features are considered an important part of the diagnosis.

Hallermann-Streiff syndrome is a very rare condition and approximately 200 cases have been reported in the literature worldwide.