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Toriello-Carey syndrome

Disease definition

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

ORPHA:3338

  • Synonym(s):
    • Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 217980
  • UMLS: -
  • MeSH: -
  • GARD: 5225
  • MedDRA: -

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