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Hallermann Streiff syndrome is a rare genetic condition that causes dwarfism, abnormal skull and tooth development, thin hair, and vision problems. There is no cure, but symptoms can be treated by a team of specialists. The cause is unknown, but it is thought to be caused by a mutation of genes due to recessive characteristics in both parents. The syndrome can lead to other diseases and is usually diagnosed after birth. It is named after Wilhelm Hallermann and Enrico Streiff, who first reported patients with the condition in the late 1800s.
An extremely rare genetic condition, Hallermann Streiff syndrome is primarily indicated by dwarfism, abnormal skull and tooth development, thin hair, and vision problems. It is also known as Francois dyskephaly syndrome. As there is no cure for Hallermann Streiff syndrome; it can only be treated by a team of specialists — such as dentists, optometrists, and surgeons — to relieve symptoms. No known cause has been found for the syndrome
Hallermann Streiff syndrome can be indicated by visual cues, including a small lower jaw, a flat nose that looks similar to a beak, and a large head. Individuals with the disease are usually short, but proportionate. The eyes are often abnormally small.
Common symptoms of Hallermann Streiff syndrome are poor vision, skin atrophy, and poor dental development. In some cases, the teeth will be present at birth. Vision problems are also usually present when the individual is born and typically consist of cataracts and possible eye damage due to the small size of the eyes. In rare cases, the condition can also cause mental retardation.
Deformities in the structure of the airways and skull of individuals with the disease can lead to other diseases. There is also a risk of obstructive sleep apnea, feeding problems and lung infections. Extra teeth in the jaw bone can cause malformations and crowding.
Hallermann Streiff syndrome has been hypothesized to be caused by mutation of genes due to recessive characteristics in both parents. In most of the reported cases, the development of the condition is accidental; there is usually no family history of the disease. Studies have focused on trying to find out which event or series of events causes the disease to develop.
The syndrome usually needs to be diagnosed after birth, although some signs, such as an underdeveloped jaw, may show up on an ultrasound. A physical exam will give a doctor most of the information needed to determine if a patient has the condition. X-rays can also be helpful as deformed bones are one of the key indicators of the disease.
Hallermann Streiff syndrome is named after Wilhelm Hallermann and Enrico Streiff, the men who made the first reports of patients with the condition. The medical community discovered this in the late 1800s. Today, an organization known as Schattenkinder eV in Germany offers support to those affected.
