Conditions / Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
info · Syndrome
A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.
Signs and symptoms
- Large forehead
- Hypotonia
- Hyperplasia of midface
- Hypertelorism
- Thick lower lip vermilion
- Thick upper lip vermilion
- Wide mouth
- Polyhydramnios
- Wide nasal bridge
- Long face
Also known as: PMSE; PMSE syndrome; Pretzel syndrome