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mirror polydactyly-vertebral segmentation-limbs defects syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mirror polydactyly-vertebral segmentation-limbs defects syndrome

MONDO:0017583

Overview

Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.

Diagnosis

Biomarker and diagnostic research for mirror polydactyly-vertebral segmentation-limbs defects syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (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 mirror polydactyly-vertebral segmentation-limbs defects syndrome.

74 publications have been identified in PubMed for mirror polydactyly-vertebral segmentation-limbs defects syndrome. Research spans Basic Science / Preclinical (48%), Case Report / Case Series (22%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Laboratory research	31	48%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3004

GARD

Genetic and Rare Diseases Info Center

GARD:18784

Questions for Your Care Team

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mirror polydactyly-vertebral segmentation-limbs defects syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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