Hapnes Boman Skeie syndrome
Hapnes Boman Skeie syndrome
Hapnes Boman Skeie syndrome (pronounced: hap-nes bo-man skee-eh syndrome) is a rare genetic disorder characterized by a variety of symptoms including intellectual disability, growth retardation, and distinctive facial features.
Etymology
The syndrome is named after the Norwegian physicians who first described it, Dr. Oddvar Hapnes, Dr. Kjell Boman, and Dr. Sverre Skeie.
Symptoms and Signs
The most common symptoms of Hapnes Boman Skeie syndrome include intellectual disability, growth retardation, and distinctive facial features. Other symptoms may include microcephaly (small head size), hypotonia (low muscle tone), and epilepsy.
Causes
Hapnes Boman Skeie syndrome is caused by mutations in a specific gene. The exact gene is currently unknown, but research is ongoing to identify it.
Diagnosis
Diagnosis of Hapnes Boman Skeie syndrome is based on clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment of Hapnes Boman Skeie syndrome is symptomatic and supportive. This may include physical therapy, special education, and medication for seizures.
Prognosis
The prognosis for individuals with Hapnes Boman Skeie syndrome varies. Some individuals may have mild symptoms and live a normal lifespan, while others may have severe symptoms and a shortened lifespan.
See Also
- List of genetic disorders
- Intellectual disability
- Growth retardation
- Microcephaly
- Hypotonia
- Epilepsy
External links
- Medical encyclopedia article on Hapnes Boman Skeie syndrome
- Wikipedia's article - Hapnes Boman Skeie syndrome
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