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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.
Source: GARD Last updated on 05-01-20
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