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Carey-Fineman-Ziter syndrome

Disease definition

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

ORPHA:1358

  • Synonym(s):
    • Myopathy-Moebius-Robin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 254940
  • UMLS: -
  • MeSH: -
  • GARD: 3889
  • MedDRA: -

Additional information

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