Overview
Neuroectodermal-endocrine syndrome is a very rare condition that affects two major body systems at the same time: the nervous system (which controls how the brain and nerves work) and the endocrine system (which controls hormones). Because it is so rare, it is sometimes also referred to by its Orphanet code 2676. The syndrome causes a mix of problems related to how nerve cells develop and how the body produces and regulates hormones. This combination of features is what makes it unique and sometimes difficult to diagnose quickly. People with this condition may experience a range of symptoms including skin changes, problems with hormone-producing glands, and neurological difficulties. The exact features can vary from person to person, which means the condition can look different in different individuals. Because so few cases have been reported in the medical literature, doctors are still learning about the full range of symptoms and how the disease progresses over time. Treatment is currently focused on managing individual symptoms rather than curing the underlying cause. A team of specialists is usually needed to address the different body systems involved. Research into this condition is ongoing, but the rarity of the syndrome means that large clinical trials are not yet available.
Also known as:
Key symptoms:
Skin changes or unusual skin markingsProblems with hormone levels (endocrine dysfunction)Neurological symptoms such as seizures or developmental delaysAbnormalities in glands that produce hormonesPossible intellectual or learning difficultiesGrowth problems or short staturePossible vision or eye abnormalities
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Neuroectodermal-endocrine syndrome.
View clinical trials →Clinical Trials
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Neuroectodermal-endocrine syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What tests do you recommend to confirm the diagnosis and understand which body systems are affected?,Should I have genetic testing, and if so, what type is most appropriate for my situation?,Which specialists should be part of my care team, and how often should I see each one?,Are there any clinical trials or research studies I could participate in?,What symptoms should prompt me to go to the emergency room right away?,How will this condition affect my daily life, and what support services are available?,Are there any patient registries or advocacy groups that could connect me with others who have this condition?
Common questions about Neuroectodermal-endocrine syndrome
What is Neuroectodermal-endocrine syndrome?
Neuroectodermal-endocrine syndrome is a very rare condition that affects two major body systems at the same time: the nervous system (which controls how the brain and nerves work) and the endocrine system (which controls hormones). Because it is so rare, it is sometimes also referred to by its Orphanet code 2676. The syndrome causes a mix of problems related to how nerve cells develop and how the body produces and regulates hormones. This combination of features is what makes it unique and sometimes difficult to diagnose quickly. People with this condition may experience a range of symptoms i
Which specialists treat Neuroectodermal-endocrine syndrome?
18 specialists and care centers treating Neuroectodermal-endocrine syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.