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Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
Features include always present findings: Cleft palate, Anencephaly, Postaxial hand polydactyly, and Bile duct proliferation and others; and common findings: Bowing of the long bones and Postaxial foot polydactyly.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Cleft palate, Cleft upper lip |
RPGRIP1L function has not been fully characterized.
Meckel syndrome, type 5 is associated with mutations in the RPGRIP1L gene on chromosome 16.
Genetic testing for RPGRIP1L is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 8 always present features, 2 common features.
No clinical trials have been registered for Meckel syndrome, type 5.
8 publications have been identified in PubMed for Meckel syndrome, type 5. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).
Liu Y (2026). [PMID: 41518077](https://pubmed.ncbi.nlm.nih.gov/41518077/). *Genesis*. [Gene Therapy / Novel Therapeutics]
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]
Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clin Genet*. [Case Report / Case Series]
Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meckel syndrome, type 5
Arms and legs
2 |
Postaxial hand polydactyly, Postaxial foot polydactyly |
Kidneys and urinary system | 1 | Renal cyst |
Bones and joints | 1 | Bowing of the long bones |
Junior JHMF (2024). [PMID: 38459147](https://pubmed.ncbi.nlm.nih.gov/38459147/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Xu H (2024). [PMID: 39479399](https://pubmed.ncbi.nlm.nih.gov/39479399/). *Front Genet*. [Case Report / Case Series]