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Van Den Bosch syndrome
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Van Den Bosch syndrome

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Van Den Bosch syndrome
Other names Mental deficiency, choroideremia, acrokeratosis verruciformis, anhidrosis, skeletal deformity

van Den Bosch syndrome is a rare X-linked syndrome like intellectual disability. It may be caused by a small X-chromosome deletion.

The condition can be detected around infancy.

Epidemiology

According to Orphanet the condition occurs in 1 in 1 million people.

It has been reported in only one family.

Symptoms

Symptoms for the condition include.

  • Abnormal electroretinogram
  • Acrokeratosis
  • Anhidrotic ectodermal dysplasia
  • Choroideremia
  • Heat intolerance
  • High myopia
  • Horizontal nystagmus
  • Intellectual disability
  • Recurrent respiratory infections
  • Recurrent skin infections
  • Scapular winging
  • Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
  • skeletal abnormality
  • Anhidrosis
  • Contiguous gene syndrome
  • X-linked inheritance

History

It was first described by J. Van den Bosch in 1959. He reported the condition in 2 brothers. The condition was found in more males spanning three generations. According to Orphanet there have been no more descriptions in literature since 1959.


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