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中文Carey-Fineman-Ziter Syndrome 1 (CFZS1)
Alias:
Carey-Fineman-Ziter Syndrome
Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence
Congenital Nonprogressive Myopathy with Moebius and Robin Sequences
Myopathy-Moebius-Robin Syndrome
Cfzs1
Congenital Non-Progressive Myopathy with Moebius and Robin Sequences
Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences
Myopathy Moebius Robin Syndrome
Cfz Syndrome
Cfzs
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Carey-Fineman-Ziter Syndrome 1, also known as Carey-Fineman-Ziter syndrome, is related to congenital myopathy and Moebius syndrome, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Carey-Fineman-Ziter Syndrome 1 is MYMK (Myomaker, Myoblast Fusion Factor), and among its related pathways/superpathways are Defective DPM3 causes DPM3-CDG and Pathophysiological roles of DUX4 in FSHD1. Affiliated tissues include brain and skeletal muscle, and related phenotypes are ptosis and facial palsy.
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