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recombinant 8 syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

recombinant 8 syndrome

MONDO:0008365

Also known as:Duplication 8q/deletion 8pRec(8) syndromeRec8 syndrome

Overview

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

GeneticsAutosomal dominant

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 always present findings: Thin upper lip vermilion. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Enlarged brain ventricles (ventriculomegaly), Intellectual disability
Muscles

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 recombinant 8 syndrome.

3 publications have been identified in PubMed for recombinant 8 syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Edek YC (2024). [PMID: 39122520](https://pubmed.ncbi.nlm.nih.gov/39122520/). *Dermatology practical & conceptual*. [Case Report / Case Series]
Lv LX (2024). [PMID: 38844185](https://pubmed.ncbi.nlm.nih.gov/38844185/). *Fish & shellfish immunology*. [Basic Science / Preclinical]
Zhang T (2024). [PMID: 39049059](https://pubmed.ncbi.nlm.nih.gov/39049059/). *Veterinary research*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:179613

Orphanet

European rare disease database

Orphanet:96167

GARD

Genetic and Rare Diseases Info Center

GARD:9698

Questions for Your Care Team

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recombinant 8 syndrome

Overview

Clinical Presentation

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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