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mullerian duct anomalies-limb anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mullerian duct anomalies-limb anomalies syndrome

MONDO:0007795

Also known as:Müllerian duct anomalies-limb anomalies syndromehypomelia mullerian duct anomalieshypomelia with mullerian duct anomalies

Overview

Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Uterus didelphys, Postaxial hand polydactyly, Longitudinal vaginal septum, and Split hand.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Postaxial hand polydactyly, Split hand

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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 mullerian duct anomalies-limb anomalies syndrome.

1 publication has been identified in PubMed for mullerian duct anomalies-limb anomalies syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Mwagobele L (2025). [PMID: 40334442](https://pubmed.ncbi.nlm.nih.gov/40334442/). *Int J Surg Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146160

Orphanet

European rare disease database

Orphanet:2491

GARD

Genetic and Rare Diseases Info Center

GARD:2908

Questions for Your Care Team

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mullerian duct anomalies-limb anomalies syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team