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mammary-digital-nail syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mammary-digital-nail syndrome

MONDO:0013368

Also known as:MDN syndromeonycho-digito-mammary syndromeMDNS

Overview

Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Nail dysplasia, Breast hypertrophy, Nail dystrophy, and Anonychia.

Organ System	Phenotype Count	Example Features
Skin	2	Nail dysplasia, Nail dystrophy

Explore clinical features

Diagnosis

Biomarker and diagnostic research for mammary-digital-nail 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 mammary-digital-nail syndrome.

103 publications have been identified in PubMed for mammary-digital-nail syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	59	71%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613689

Orphanet

European rare disease database

Orphanet:238744

GARD

Genetic and Rare Diseases Info Center

GARD:17180

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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mammary-digital-nail 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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