Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

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Synonyms: Ferlini-Ragno-Calzolari syndrome | Waaler-Aarskog syndrome

A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay psychosis brachydactyly and costovertebral dysplasia may also be present.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome?

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