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intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

MONDO:0034989

Overview

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.

ResearchLimited published research (3 articles)

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-cardiac anomalies-short stature-joint laxity syndrome.

3 publications have been identified in PubMed for intellectual disability-cardiac anomalies-short stature-joint laxity syndrome. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Valientes SDA (2026). [PMID: 41751561](https://pubmed.ncbi.nlm.nih.gov/41751561/). *Genes (Basel)*. [Case Report / Case Series]
Nazarie FV (2025). [PMID: 41226044](https://pubmed.ncbi.nlm.nih.gov/41226044/). *Diagnostics (Basel)*. [Epidemiology / Natural History]
Mikhailova T (2025). [PMID: 40756776](https://pubmed.ncbi.nlm.nih.gov/40756776/). *Case Rep Genet*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 10:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:508498

GARD

Genetic and Rare Diseases Info Center

GARD:17948

Questions for Your Care Team

→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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intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team