Living with MEDNIK syndrome
A rare inherited condition of copper handling that affects the gut, nerves, skin, hearing, and learning.
Understanding MEDNIK syndrome
Features include intellectual disability, intestine problems (enteropathy), hearing loss from the inner ear, nerve damage in the limbs, and skin that is thick and scaly (ichthyosis and keratoderma). It can start in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Thick, scaly skin (ichthyosis)
- Thickened outer skin layer (hyperkeratosis)
- Nerve damage in the arms and legs (peripheral neuropathy)
- Intestinal problems
- Bile flow problems in the liver (cholestasis)
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, ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in AP1S1 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); Ear, nose, and throat specialists (otolaryngologists); 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 AP1S1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: erythrokeratodermia variabilis 3; erythrokeratodermia variabilis kamouraska type; erythrokeratodermia variabilis, kamouraska type; intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
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 MEDNIK syndrome.
Explore research for MEDNIK syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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