Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome

This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

Epidemiology

The syndrome has been described in eight female patients.

Genetic counseling

The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant.