Van Den Bosch syndrome

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. ^{[1] [2] [3] [4]} It may be caused by a small X-chromosome deletion. ^[1]

The condition can be detected around infancy. ^{[5] : 1067}

Epidemiology

According to Orphanet the condition occurs in 1 in 1 million people. ^[2]

It has been reported in only one family. ^[6]

Symptoms

Symptoms for the condition include. ^[1]

• 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. ^[7] He reported the condition in 2 brothers. The condition was found in more males spanning three generations. ^[8] According to Orphanet there have been no more descriptions in literature since 1959. ^[2]

References

1. "Van Den Bosch syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-13.
2. "Orphanet: Van den Bosch syndrome". www.orpha.net. Retrieved 2021-09-28.
3. "Van Den Bosch syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-28.
4. "Van Den Bosch syndrome". www.malacards.org. Retrieved 2021-09-28.
5. Bergsma, Daniel (2016-06-14). Birth Defects Compendium. Springer. ISBN   978-1-349-05131-1.
6. "Van Den Bosch Syndrome". DoveMed. Retrieved 2021-11-05.
7. van den Bosch, J. (1959). "A New Syndrome in Three Generations of a Dutch Family". Ophthalmologica. 137 (6): 422–423. doi: 10.1159/000303582 . ISSN   1423-0267.
8. Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis (2012-07-12). Atlas of X-Linked Intellectual Disability Syndromes. OUP USA. p. 255. ISBN   978-0-19-981179-3.