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congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

MONDO:0013760

Also known as:congenital ichthyosis-intellectual disability-spastic tetraplegia syndromeISQMRichthyosis, spastic quadriplegia, and intellectual disability

Overview

GeneticsAutosomal recessive · ELOVL4 (chr 6)

ResearchLimited published research (9 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 always present findings: Profound intellectual disability, Erythema, Dry skin, and Profound global developmental delay and others; and common findings: Delayed CNS myelination, Inguinal hernia, Generalized myoclonic seizure, and Brain atrophy and others. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Generalized myoclonic seizure, Seizure, Profound intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ELOVL4 encodes ELOVL fatty acid elongase 4 (314 aa). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. Highest expression in Skin Sun Exposed Lower leg (68.2 TPM) and Skin Not Sun Exposed Suprapubic (64.1 TPM).

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is associated with mutations in the ELOVL4 gene on chromosome 6.

The ELOVL4 protein participates in ELOVL1,4 elongate TCS-CoA and Mal-CoA to 3OHC-CoA pathway.

ELOVL4 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for ELOVL4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 10 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 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome.

9 publications have been identified in PubMed for congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (11%).

Recent Publications

Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthopaedics & traumatology, surgery & research : OTSR*. [Review / Meta-Analysis]
Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesthesia progress*. [Case Report / Case Series]
Alroqi F (2026). [PMID: 41676145](https://pubmed.ncbi.nlm.nih.gov/41676145/). *Front Immunol*. [Case Report / Case Series]
İcil S (2026). [PMID: 42232678](https://pubmed.ncbi.nlm.nih.gov/42232678/). *Mol Syndromol*. [Epidemiology / Natural History]
Dubot P (2025). [PMID: 38706107](https://pubmed.ncbi.nlm.nih.gov/38706107/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614457

Orphanet

European rare disease database

Orphanet:352333

GARD

Genetic and Rare Diseases Info Center

GARD:17515

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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congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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