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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2180
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.
The syndrome has been described in eight female patients.
The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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