Hallermann–Streiff syndrome
Hallermann–Streiff syndrome (HSS) is a rare congenital disorder characterized by distinctive craniofacial abnormalities, dental anomalies, and proportionate dwarfism. The syndrome is named after the German ophthalmologist Wilhelm Hallermann and the Swiss ophthalmologist Enrico Streiff, who first described the condition in the 20th century.
Clinical Features[edit | edit source]
Individuals with Hallermann–Streiff syndrome typically present with a combination of the following features:
- Craniofacial dysmorphisms: These include a small head (microcephaly), a beaked nose, a small mouth, and a receding chin (micrognathia).
- Dental anomalies: These may include delayed eruption of teeth, missing teeth (hypodontia), and dental crowding.
- Proportionate dwarfism: Short stature with normal body proportions.
- Ocular abnormalities: These can include cataracts, microphthalmia (small eyes), and nystagmus.
- Skin and hair abnormalities: Thin skin and sparse hair, particularly on the scalp.
- Respiratory issues: Due to craniofacial abnormalities, individuals may experience breathing difficulties.
Diagnosis[edit | edit source]
The diagnosis of Hallermann–Streiff syndrome is primarily clinical, based on the characteristic physical features. Genetic testing may be used to rule out other conditions with overlapping symptoms.
Management[edit | edit source]
There is no cure for Hallermann–Streiff syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team, including:
- Ophthalmology: For the management of cataracts and other eye abnormalities.
- Dentistry: For dental anomalies.
- Orthopedics: For skeletal issues.
- Respiratory therapy: For breathing difficulties.
Prognosis[edit | edit source]
The prognosis for individuals with Hallermann–Streiff syndrome varies depending on the severity of the symptoms and the presence of complications. With appropriate medical care, many individuals can lead relatively normal lives.
Related Pages[edit | edit source]
- Craniofacial dysmorphisms
- Microcephaly
- Micrognathia
- Hypodontia
- Proportionate dwarfism
- Cataracts
- Microphthalmia
- Nystagmus
Categories[edit | edit source]
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