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CEDNIK syndrome
Disease definition
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
ORPHA:66631
Summary
Epidemiology
It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.
Clinical description
Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
Etiology
It is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.
Genetic counseling
The disease is inherited as an autosomal recessive condition.
Detailed information
Professionals
- Emergency guidelines
- Français (2018, pdf)
- Practical genetics
- English (2013, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.