Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome (Q84891): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome CEDNIK é uma síndrome neurocutânea caracterizada por graves anormalidades de desenvolvimento do sistema nervoso e diferenciação aberrante da epiderme. Clinicamente, é definida por uma constelação única de sinais clínicos descritos com a sigla CEDNIK: Cerebral Disgenesia, Neuropatia, Ictiose, e ceratodermia palmoplantar. | |||
| description / en | description / en | ||
CEDNIK syndrome is a neurocutaneous syndrome characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Clinically, it is defined by a unique constellation of clinical signs described with the acronym CEDNIK: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. | |||
Revision as of 10:15, 15 August 2026
CEDNIK syndrome is a neurocutaneous syndrome characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Clinically, it is defined by a unique constellation of clinical signs described with the acronym CEDNIK: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_170763135 |
||
| English | Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome |
CEDNIK syndrome is a neurocutaneous syndrome characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Clinically, it is defined by a unique constellation of clinical signs described with the acronym CEDNIK: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
