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mullerian derivatives-lymphangiectasia-polydactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mullerian derivatives-lymphangiectasia-polydactyly syndrome

MONDO:0009333

Also known as:MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactylyMüllerian derivatives-lymphangiectasia-polydactyly syndromeUrioste syndrome

Overview

Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.

GeneticsAutosomal recessive

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: Hepatic failure, Protein-losing enteropathy, Inguinal hernia, and Low muscle tone (hypotonia) and 37 more.

Organ System	Phenotype Count	Example Features
Digestive system	6	Hepatic failure, Enlarged liver (hepatomegaly), Abdominal distention

Diagnosis

Biomarker and diagnostic research for mullerian derivatives-lymphangiectasia-polydactyly 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 mullerian derivatives-lymphangiectasia-polydactyly syndrome.

200 publications have been identified in PubMed for mullerian derivatives-lymphangiectasia-polydactyly syndrome. Research spans Review / Meta-Analysis (41%), Epidemiology / Natural History (15%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Research summaries	68	41%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:235255

Orphanet

European rare disease database

Orphanet:1655

GARD

Genetic and Rare Diseases Info Center

GARD:5430

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mullerian derivatives-lymphangiectasia-polydactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

mullerian derivatives-lymphangiectasia-polydactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications