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intellectual disability-spasticity-ectrodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-spasticity-ectrodactyly syndrome

MONDO:0009524

Also known as:Jancar syndromeectrodactyly, spastic paraplegia and intellectual disabilityectrodactyly, spastic paraplegia and mental retardation

Overview

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).

Diagnosis

Biomarker and diagnostic research for intellectual disability-spasticity-ectrodactyly 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 intellectual disability-spasticity-ectrodactyly syndrome.

274 publications have been identified in PubMed for intellectual disability-spasticity-ectrodactyly syndrome. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (24%).

Research Type	Count	% of Total
Patient case studies	88	32%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:246555

Orphanet

European rare disease database

Orphanet:1891

GARD

Genetic and Rare Diseases Info Center

GARD:3523

Questions for Your Care Team

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intellectual disability-spasticity-ectrodactyly syndrome

Overview

Diagnosis

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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