Hapnes Boman Skeie syndrome

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Hapnes Boman Skeie syndrome
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Synonyms	HBS syndrome
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Cerebellar ataxia, dysarthria, nystagmus, intention tremor
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, neurological examination
Differential diagnosis	Spinocerebellar ataxia, Friedreich's ataxia
Prevention	N/A
Treatment	Symptomatic treatment, physical therapy
Medication	N/A
Prognosis	Variable
Frequency	Rare disease
Deaths	N/A

Hapnes Boman Skeie syndrome is a rare genetic disorder characterized by a variety of symptoms including dwarfism, cataracts, intellectual disability, and hypogonadism. The syndrome is named after the Norwegian physicians who first described it in 1981, Dr. Oddvar Hapnes and Dr. Sverre Boman, and the geneticist who identified the genetic cause, Dr. Helge Skeie.

Symptoms and Signs

The symptoms of Hapnes Boman Skeie syndrome can vary greatly from person to person. However, some common symptoms include:

• Dwarfism: Individuals with this syndrome often have short stature.
• Cataracts: This is a condition where the lens of the eye becomes cloudy, leading to vision problems.
• Intellectual disability: Many individuals with this syndrome have some degree of intellectual disability.
• Hypogonadism: This is a condition where the body does not produce enough sex hormones. In males, this can lead to a lack of sexual development. In females, it can lead to a lack of menstrual periods and secondary sexual characteristics.

Causes

Hapnes Boman Skeie syndrome is caused by mutations in a gene known as HMBS. This gene provides instructions for making an enzyme that is involved in the production of heme, a component of hemoglobin, the protein in red blood cells that carries oxygen. Mutations in the HMBS gene disrupt the normal production of heme, leading to the symptoms of Hapnes Boman Skeie syndrome.

Diagnosis

Diagnosis of Hapnes Boman Skeie syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing showing a mutation in the HMBS gene.

Treatment

There is currently no cure for Hapnes Boman Skeie syndrome. Treatment is symptomatic and supportive, and may include regular eye exams to monitor for cataracts, hormone replacement therapy for hypogonadism, and special education services for intellectual disability.

See Also

• Genetic disorders
• Dwarfism
• Cataracts
• Intellectual disability
• Hypogonadism

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