Conditions / Syndrome
Carey-Fineman-Ziter syndrome 1
info · Syndrome
A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, a
A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.
Signs and symptoms
- Seizure
- Myopathy
- Distal muscle weakness
- Cataract
- Proximal muscle weakness
- Spinal rigidity
- Retrognathia
- Sensorineural hearing impairment
- Bowel irritability
- Facial palsy
Also known as: CFZS1