Living with Neuroectodermal-endocrine syndrome
A very rare condition with hormone and nervous system differences, including low growth hormone, delayed puberty, hearing loss, and diabetes.
Understanding Neuroectodermal-endocrine syndrome
It includes low growth hormone levels, delayed puberty, type 2 diabetes, mild intellectual disability, hearing loss from the inner ear, a distinct facial appearance, and hair loss. It has been described in four siblings from Myanmar.
Signs & symptoms
GARD doesn't list a symptom list, but the summary describes these features:
- Low growth hormone levels
- Delayed puberty
- Type 2 diabetes
- Mild intellectual disability
- Hearing loss (sensorineural)
- Hair loss (alopecia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD doesn't describe a cause for this condition yet.
Also known as: oerter-friedman-anderson syndrome
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 Neuroectodermal-endocrine syndrome.
Explore research for Neuroectodermal-endocrine syndrome
Explore actively recruiting Neuroectodermal-endocrine syndrome studies with HealthSpark.
Find actively recruiting studies for Neuroectodermal-endocrine 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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