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neuroectodermal-endocrine syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuroectodermal-endocrine syndrome

MONDO:0017045

Also known as:Oerter-Friedman-Anderson syndrome

Overview

Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

Diagnosis

Biomarker and diagnostic research for neuroectodermal-endocrine syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuroectodermal-endocrine syndrome.

237 publications have been identified in PubMed for neuroectodermal-endocrine syndrome. Research spans Review / Meta-Analysis (48%), Basic Science / Preclinical (15%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Research summaries	114	48%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2676

GARD

Genetic and Rare Diseases Info Center

GARD:3959

Questions for Your Care Team

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neuroectodermal-endocrine syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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