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]
 | This dermatology article is a stub. You can help WikiMD by expanding it. |
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 | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
