Conditions / Syndrome
CEDNIK syndrome
info · Syndrome
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmopr
A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
Signs and symptoms
- Poor head control
- Failure to thrive
- Hypertelorism
- Cortical dysplasia
- Pachygyria
- Progressive microcephaly
- Downslanted palpebral fissures
- Wide nasal bridge
- Long face
- Global developmental delay
Also known as: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome