Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Alternate names[edit | edit source]
CEDNIK syndrome
Definition[edit | edit source]
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
Epidemiology[edit | edit source]
It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.
Cause[edit | edit source]
It is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.
Inheritance[edit | edit source]
The disease is inherited as an autosomal recessive condition.
Signs and symptoms[edit | edit source]
Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Ataxia
- Diffuse palmoplantar keratoderma
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Global developmental delay
- Hypertelorism(Wide-set eyes)
- Ichthyosis
- Intellectual disability(Mental deficiency)
- Long face(Elongation of face)
- Microcephaly(Abnormally small skull)
- Poor head control
- Prominent nasal bridge(Elevated nasal bridge)
30%-79% of people have these symptoms
- Abnormal corpus callosum morphology
- Abnormality of eye movement(Abnormal eye movement)
- Abnormality of peripheral nerve conduction
- Areflexia(Absent tendon reflexes)
- Optic atrophy
- Pachygyria(Fewer and broader ridges in brain)
- Peripheral neuropathy
- Polymicrogyria(More grooves in brain)
5%-29% of people have these symptoms
- Abnormality of the dentition(Abnormal dentition)
- Abnormality of vision(Abnormality of sight)
- Congestive heart failure(Cardiac failure)
- Depressed nasal ridge(Flat nose)
- Dolichocephaly(Long, narrow head)
- Hypogonadism(Decreased activity of gonads)
- Macrotia(Large ears)
- Nephrotic syndrome
- Proteinuria(High urine protein levels)
- Seizure
- Sensorineural hearing impairment
- Short stature(Decreased body height)
- Stroke
Diagnosis[edit | edit source]
- Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia.
- Tendon reflexes are usually absent.
- Nerve conduction studies usually show decreased amplitude indicating decrease in the number of active neurons.
- Muscle biopsies show atrophy.
- Ophthalmologic evaluation show hypoplastic optic disk and electrophysiological studies were suggestive of decreased conductance in retina and features of macular atrophy.
- Mild sensorineural hearing loss is present.
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome is a rare disease.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Resources | ||
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