Van Den Bosch syndrome

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.