Van den Bosch syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Van den Bosch syndrome is a very rare congenital disease with the main features of mental retardation , choroideremia , Verruciformis Acrokeratosis , anhidrosis and malformations of the skeleton .
The name refers to the author of the first description from 1959 by the Dutch doctor J. Van den Bosch.
distribution
The frequency is given as less than 1 in 1,000,000, so far only one family has been described. Inheritance is X-linked recessive .
root cause
The cause is not known.
Clinical manifestations
Clinical criteria are:
- Mental retardation
- Development setback
- horizontal nystagmus
- Choroideremia
- severe nearsightedness
- Scapula alata both sides
- Acrokeratosis verruciformis
- Tendency to skin and respiratory infections
- Anhidrosis
- Skeletal malformations
Individual evidence
- ↑ a b c Van den Bosch syndrome. In: Orphanet (Rare Disease Database).
- ^ J. Van den Bosch: A new syndrome in three generations of a Dutch family. In: Ophthalmologica Vol. 137; Pp. 422-423, 1959.
- ↑ Van den Bosch syndrome. In: Online Mendelian Inheritance in Man . (English)
