Hallermann's syndrome
Hallermann's syndrome, also known as Hallermann-Streiff syndrome (HSS), is a rare genetic disorder characterized by distinctive facial features, dental abnormalities, eye problems, and skin atrophy. The syndrome was first described by Wilhelm Hallermann and François Streiff, and is therefore named after them.
Symptoms and Signs[edit | edit source]
The most common symptoms of Hallermann's syndrome include a narrow, bird-like face with a beak-like nose, prominent eyes, and a small chin (micrognathia). Other features can include dental abnormalities such as missing or poorly developed teeth (hypodontia), and skin atrophy. Eye problems are also common, including cataracts, glaucoma, and strabismus. Some individuals may also have hair loss (alopecia) and short stature.
Causes[edit | edit source]
Hallermann's syndrome is thought to be caused by spontaneous mutations in the genes. However, the exact genetic cause is still unknown. It is not typically inherited, but occurs as a new mutation in the affected individual.
Diagnosis[edit | edit source]
Diagnosis of Hallermann's syndrome is based on the physical features observed in the patient. Genetic testing may also be used to confirm the diagnosis, although the specific genetic cause is not always identified.
Treatment[edit | edit source]
There is no cure for Hallermann's syndrome, and treatment is symptomatic and supportive. This may include dental care to manage the dental abnormalities, and eye care to manage the eye problems. Surgery may be required in some cases to correct the facial abnormalities.
Prognosis[edit | edit source]
The prognosis for individuals with Hallermann's syndrome varies. Some individuals may have a normal lifespan, while others may have life-threatening complications due to the associated eye and dental problems.
See Also[edit | edit source]
References[edit | edit source]
- Hallermann W, Streiff EB. Syndrome of dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. Am J Ophthalmol. 1950;34(1):1-12.
- François J. A new syndrome: dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. Am J Ophthalmol. 1958;46(5):681-682.
NIH genetic and rare disease info[edit source]
Hallermann's syndrome is a rare disease.
Hallermann's syndrome Resources | |
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Contributors: Prab R. Tumpati, MD