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Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
Features include always present findings: Encephalocele and Polydactyly; and common findings: Occipital encephalocele, Abdominal distention, and Polycystic kidney dysplasia. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Cleft palate, Microcephaly, Cleft upper lip |
TCTN2 function has not been fully characterized.
Meckel syndrome, type 8 is associated with mutations in the TCTN2 gene on chromosome 12.
Genetic testing for TCTN2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 3 common features.
No clinical trials have been registered for Meckel syndrome, type 8.
3 publications have been identified in PubMed for Meckel syndrome, type 8. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (33%).
Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meckel syndrome, type 8
Kidneys and urinary system
3 |
Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
Digestive system | 1 | Abdominal distention |
Heart and blood vessels | 1 | Pericardial effusion |
Brain and nerves | 1 | Depressed nasal ridge |