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diastematomyelia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diastematomyelia

MONDO:0009106

Also known as:SCM type 1split cord malformation type 1Dimyelia

Overview

A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Nervous system problems (abnormality of the nervous system).

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Nervous system problems (abnormality of the nervous system)

Explore clinical features

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 diastematomyelia.

43 publications have been identified in PubMed for diastematomyelia. Research spans Case Report / Case Series (60%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	26	60%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:222500

Orphanet

European rare disease database

Orphanet:1671

GARD

Genetic and Rare Diseases Info Center

GARD:1851

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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diastematomyelia

Overview

Clinical Presentation

Explore clinical features

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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