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hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0010972:  hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
GARD:0005518: 
MESH:C536461: 
Orphanet:2180: 
SCTID:721229003: