Van den Bosch syndrome

Definition

A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.

Disease data

Classification

Malformation syndrome

ORPHA code

3417

OMIM code

314500

ICD10 code

Q87.8

ICD11 code

*Soruce