Conditions / Nervous system
Marsili syndrome
info · Nervous system
A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
Signs and symptoms
- Pain insensitivity
- Decreased corneal reflex
- Impaired temperature sensation
- Recurrent fever
- Painless fractures due to injury
- Hypohidrosis
- Headache
- Corneal scarring
- Lacrimation abnormality