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familial anetoderma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial anetoderma

MONDO:0016445

Also known as:hereditary anetodermahereditary macular atrophy

Overview

Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Papule; and common findings: High, narrow palate, Generalized joint hypermobility, Excessive inward curve of the lower back (lumbar hyperlordosis), and Abnormal tibia morphology and others.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Generalized joint hypermobility, Excessive inward curve of the lower back (lumbar hyperlordosis)

Diagnosis

Biomarker and diagnostic research for familial anetoderma has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 5 common features.

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 familial anetoderma.

36 publications have been identified in PubMed for familial anetoderma. Research spans Review / Meta-Analysis (26%), Case Report / Case Series (26%), and Epidemiology / Natural History (23%).

Research Type	Count	% of Total
Research summaries	9	26%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 3:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:228277

GARD

Genetic and Rare Diseases Info Center

GARD:20585

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

familial anetoderma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial anetoderma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications