What is the definition of Carey-Fineman-Ziter Syndrome?

Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence), among other symptoms.  CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development. Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement.

What are the alternative names for Carey-Fineman-Ziter Syndrome?

  • Carey Fineman Ziter syndrome
  • CFZ syndrome
  • Moebius sequence, Robin complex, and hypotonia
  • Myopathy, congenital nonprogressive with Moebius and Robin sequences
  • Carey-Fineman-Ziter syndrome
  • Myopathy-Moebius-Robin syndrome
  • Congenital nonprogressive myopathy with Moebius and Robin sequences
  • CFZS

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