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.