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recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome (IDMDC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

MONDO:0017232

Also known as:IDMDC

Overview

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.

ResearchLimited published research (3 articles)

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 very common findings: Absent speech, Loss of previously acquired skills (developmental regression), Limb joint contracture, and Severe intellectual disability; and common findings: Wide mouth, Macroglossia, Febrile seizure (within the age range of 3 months to 6 years), and Elbow flexion contracture and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8

Prognosis

Phenotype severity distribution: 4 very common features, 6 common features.

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 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome.

3 publications have been identified in PubMed for recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. Research spans Other (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Bermejo Ramírez R (2025). [PMID: 39762222](https://pubmed.ncbi.nlm.nih.gov/39762222/). *Hum Genome Var*. [Other]
Marczyk T (2025). [PMID: 40565581](https://pubmed.ncbi.nlm.nih.gov/40565581/). *Genes (Basel)*. [Case Report / Case Series]
Leao MB (2025). [PMID: 40152138](https://pubmed.ncbi.nlm.nih.gov/40152138/). *J Clin Ultrasound*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 12:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:280384

GARD

Genetic and Rare Diseases Info Center

GARD:21083

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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