CEDNIK syndrome
CEDNIK Syndrome
CEDNIK Syndrome (pronounced: /ˈsɛdnɪk/), is a rare genetic disorder that affects the nervous system and the skin. The name "CEDNIK" is an acronym derived from the major features of the disorder: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma.
Etymology
The term "CEDNIK" is an acronym that stands for the main features of the disorder. It was first described by Dr. Hilde Van Esch and colleagues in 2005.
Symptoms
The symptoms of CEDNIK Syndrome include microcephaly (abnormally small head size), mental retardation, spasticity, and seizures. The skin abnormalities associated with CEDNIK Syndrome include ichthyosis (scaly skin) and keratoderma (thickened skin on the palms and soles).
Causes
CEDNIK Syndrome is caused by mutations in the SNAP29 gene. This gene provides instructions for making a protein that is involved in the process of vesicle trafficking, which is important for the normal function of neurons.
Diagnosis
Diagnosis of CEDNIK Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing that identifies a mutation in the SNAP29 gene.
Treatment
There is currently no cure for CEDNIK Syndrome. Treatment is symptomatic and supportive, and may include physical therapy for spasticity, anticonvulsant medication for seizures, and skin care for ichthyosis and keratoderma.
Prognosis
The prognosis for individuals with CEDNIK Syndrome varies. Some individuals have a severe form of the disorder and may not survive past infancy, while others have a milder form and may live into adulthood.
External links
- Medical encyclopedia article on CEDNIK syndrome
- Wikipedia's article - CEDNIK syndrome
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