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axial mesodermal dysplasia spectrum - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

axial mesodermal dysplasia spectrum

MONDO:0015944

Also known as:Russell-Weaver-Bull syndromeblastogenesis defect

Overview

Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.

Diagnosis

Biomarker and diagnostic research for axial mesodermal dysplasia spectrum has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 axial mesodermal dysplasia spectrum.

226 publications have been identified in PubMed for axial mesodermal dysplasia spectrum. Research spans Review / Meta-Analysis (45%), Basic Science / Preclinical (34%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	101	45%

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1834

GARD

Genetic and Rare Diseases Info Center

GARD:213

Questions for Your Care Team

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axial mesodermal dysplasia spectrum

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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