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immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunoskeletal dysplasia with neurodevelopmental abnormalities

MONDO:0044312

Also known as:ISDNA

Overview

GeneticsAutosomal recessive · EXTL3 (chr 8)

ResearchLimited published research (1 article)

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: Low muscle tone (hypotonia), Muscle stiffness (rigidity), Short nose, and Abnormally low T cell receptor excision circle level and others; and very common findings: Coarse facial features, Disproportionate short-limb short stature, Depressed nasal bridge, and Micrognathia. 84 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Pear-shaped vertebrae, Excessive inward curve of the lower back (lumbar hyperlordosis), Kyphoscoliosis

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.

EXTL3 encodes exostosin like glycosyltransferase 3 (919 aa). Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Highest expression in Uterus (28.8 TPM) and Esophagus Gastroesophageal Junction (26.5 TPM).

Immunoskeletal dysplasia with neurodevelopmental abnormalities has been associated with mutations in the EXTL3 gene on chromosome 8.

The EXTL3 protein participates in Expression of EXTL3 pathway.

EXTL3 is classified as a druggable target (Enzyme category) with score 2.2.

Diagnosis

Genetic testing for EXTL3 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 23 always present features, 4 very common features, 41 common features.

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 immunoskeletal dysplasia with neurodevelopmental abnormalities.

1 publication has been identified in PubMed for immunoskeletal dysplasia with neurodevelopmental abnormalities. Research spans Review / Meta-Analysis (100%).

Recent Publications

Sousa Brandão P (2026). [PMID: 41582100](https://pubmed.ncbi.nlm.nih.gov/41582100/). *Neuroradiology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617425

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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immunoskeletal dysplasia with neurodevelopmental abnormalities

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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