Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.
ORPHA:352333
Classification level: Disorder
- ELOVL4-related neuro ichthyosis
- Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (61)
- Clinical trial(s) (1)
- Biobank(s) (11)
- Registry(ies) (29)
- Network of experts (10)
Newborn screening