Living with Congenital ichthyosis-microcephalus-tetraplegia syndrome
A rare condition with scaly skin from birth, small head size, hearing loss, seizures and stiff or paralyzed limbs.
Understanding Congenital ichthyosis-microcephalus-tetraplegia syndrome
Children have ichthyosis (dry, scaly skin) with severe developmental delay, a small head, hearing loss from inner ear or nerve problems, and spastic weakness in all four limbs. Writhing movements, muscle jerks and tonic spasms have been reported. A brain MRI shows shrinking of the brain's outer layer. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly skin (ichthyosis)
- Small head size (microcephaly)
- Weakness or paralysis of all four limbs
- Increased reflexes
- Pain insensitivity
- Hearing loss
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 genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- 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
GARD says changes in genes cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: congenital ichthyosis-microcephalus-quadriplegia syndrome; congenital ichthyosis, microcephalus, quadriplegia syndrome; congenital ichthyosis, microcephalus, tetraplegia syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesCongenital ichthyosis-microcephalus-tetraplegia syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital ichthyosis-microcephalus-tetraplegia syndrome.
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