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An extremely rare genetic condition, Hallermann Streiff syndrome is primarily indicated by dwarfism, abnormalities in skull and dental development, thin hair, and vision problems. It is also known as Francois dyscephaly syndrome. As there is no cure for Hallermann Streiff syndrome; it can only treated by a team of specialists — such as dentists, optometrists, and surgeons — for relief of symptoms. There has been no known cause found for the syndrome
Hallermann Streiff syndrome can be indicated by visual clues, including a small lower jaw, a pinched nose that looks similar to a beak, and a broad 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, atrophy of the skin, and poor dental development. In some instances, teeth will be present at birth. Vision problems are also usually present when the individual is born and typically consist of cataracts and possible ocular impairment because of small eye size. In rare cases, the condition may also cause mental retardation.
Deformities in the structure of the airway and skull of individuals with the disease can lead to other illnesses. There is also a potential for obstructive sleep apnea, feeding problems, and lung infections. Extra teeth in the jawbone can cause malformation and crowding.
It has been speculated that Hallermann Streiff syndrome is caused by mutation of the genes due to recessive characteristics in both parents. In most reported cases, the development of the condition is random; there is usually not a family history of the disease. Studies have focused on attempting to discover what event or series of events causes the development of the disease.
The syndrome usually must be diagnosed after birth, though some signs, such as an underdeveloped jaw, may present themselves in an ultrasound. A physical examination will give a doctor most of the information necessary 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 gets its name from Wilhelm Hallermann and Enrico Streiff, the men who made the first reports about patients with the condition. The medical community discovered it in the late 1800s. Today an organization known as Schattenkinder e.V. in Germany offers support to affected individuals.
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