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 acetylcholinesterase 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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