Van Den Bosch syndrome
# 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 $infancy.^{:1067}$

## 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.

