Conditions / Syndrome
Carey-Fineman-Ziter syndrome 2
info · Syndrome
A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21.
Signs and symptoms
- Long philtrum
- Weakness of facial musculature
- Hypomimic face
- Dental crowding
- Thin upper lip vermilion
- Downturned corners of mouth
- Protruding ear
- Muscle weakness
- Underdeveloped nasal alae
- Pes cavus
Also known as: CFZS2