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