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[edit]
According to Orphanet the condition occurs in 1 in 1 million people.[2]
It has been reported in only one family.[6]
Symptoms[edit]
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 acetylcholine esterase inhibitors
- skeletal abnormality
- Anhidrosis
- Contiguous gene syndrome
- X-linked inheritance
History[edit]
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[edit]
- ^ a b c "Van Den Bosch syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-13.
- ^ a b c "Orphanet: Van den Bosch syndrome". www.orpha.net. Retrieved 2021-09-28.
- ^ "Van Den Bosch syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-09-28.
- ^ "Van Den Bosch syndrome". www.malacards.org. Retrieved 2021-09-28.
- ^ Bergsma, Daniel (2016-06-14). Birth Defects Compendium. Springer. ISBN 978-1-349-05131-1.
- ^ "Van Den Bosch Syndrome". DoveMed. Retrieved 2021-11-05.
- ^ 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.
- ^ 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.