Conditions / Syndrome
congenital facial palsy with ptosis and velopharyngeal dysfunction
info · Syndrome
A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in
A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11.
Signs and symptoms
- Hypernasal speech
- Facial palsy
- Ptosis
- Nasal regurgitation
- Velopharyngeal insufficiency
- Dysphagia
- Brain imaging abnormality
Also known as: FPVEPD