Carey-Fineman-Ziter syndrome 1
Carey-Fineman-Ziter syndrome 1
Definition
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.
Also known as Carey-Fineman-Ziter syndrome 1, CFZS1, myopathy-Moebius-Robin syndrome, myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence — per MONDO