Living with Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
A rare inherited condition with scaly skin from birth, seizures, severe developmental delay and stiff muscles in all four limbs.
Understanding Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Children have ichthyosis (dry, scaly skin) together with global developmental delay, intellectual disability, seizures starting in infancy and stiff muscles in all four limbs. Brain scans may show delayed myelin and shrinking brain tissue. It varies a lot even within families. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly, red skin (ichthyosis)
- Profound developmental delay
- Seizures, including myoclonic seizures
- Stiff muscles in all four limbs (spastic tetraplegia)
- Sensitivity to light and severe nearsightedness
- Joint contractures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ELOVL4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ELOVL4 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome; congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome; elovl4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis; elovl4-related neuro ichthyosis; ichthyosis, spastic quadriplegia, and impaired intellectual development
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome.
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