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Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Ferlini-Ragno-Calzolari syndrome
    • Waaler-Aarskog syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 600991
  • UMLS: C2931197
  • MeSH: -
  • GARD: 5518
  • MedDRA: -
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