Van den Bosch syndrome.
Incidence
Originally reported in two brothers and transmitted as an X-linked trait. It has x-linked recessive inheritance.
Clinical Characteristics
The components of this syndrome, which is transmitted as an X-linked recessive, are: (1) mental deficiency, (2) choroideremia, (3) acrokeratosis verruciformis, (4) anhidrosis, and (5) skeletal deformity. An interesting and possibly important point is that at least 3 of these 5 components have been described as isolated X-linked traits. The syndrome has been observed in a single kindred. Close linkage of several loci and a small X-chromosome deletion would explain this disorder as a 'contiguous gene syndrome.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnostic.