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exostoses-anetodermia-brachydactyly type E syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

exostoses-anetodermia-brachydactyly type E syndrome

MONDO:0007584

Also known as:exostoses with anetodermia and brachydactyly, type E

Overview

Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Multiple exostoses, Dermal atrophy, and Type E brachydactyly.

Organ System	Phenotype Count	Example Features
Muscles	1	Dermal atrophy

Explore clinical features

Diagnosis

Biomarker and diagnostic research for exostoses-anetodermia-brachydactyly type E syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 exostoses-anetodermia-brachydactyly type E syndrome.

201 publications have been identified in PubMed for exostoses-anetodermia-brachydactyly type E syndrome. Kisho has analyzed 62 by research type. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (13%), and Case Report / Case Series (6%).

Research Type	Count	% of Total
Research summaries	41	66%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:133690

Orphanet

European rare disease database

Orphanet:1962

GARD

Genetic and Rare Diseases Info Center

GARD:2202

Questions for Your Care Team

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exostoses-anetodermia-brachydactyly type E syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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