Living with MEND syndrome
A rare X-linked condition in males with skin changes, severe nervous system effects, and facial differences.
Understanding MEND syndrome
Skin changes include a tight, shiny membrane at birth (collodion membrane), thick scaly skin (ichthyosis), and light patches. Nervous system effects include intellectual disability, delays, and seizures. Facial differences may include a cleft palate and a small jaw. Other differences can affect the toes, fingers, heart, eyes, and urinary system. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, scaly skin (ichthyosis)
- Intellectual disability
- Developmental delay
- Low muscle tone
- Small eyes and cataracts
- Poor weight gain
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 and genetic specialists.
- 3Consider genetic testing
Changes in EBP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 EBP gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: male ebp disorder with neurologic defects; male ebp disorder with neurological defects; mend; mend syndrome, x-linked recessive
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with MEND syndrome.
Explore research for MEND syndrome
Explore actively recruiting MEND syndrome studies with HealthSpark.
Find actively recruiting studies for MEND syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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