Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.
Features include always present findings: Thick vermilion border, Microtia, Birth length less than 3rd percentile, and Breast hypoplasia and others; and common findings: Narrow mouth, Microcephaly, Delayed skeletal maturation, and Feeding difficulties and others. 46 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 3 | Short stature, Failure to thrive, Intrauterine growth retardation |
ORC6 encodes origin recognition complex subunit 6 (252 aa). Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. Highest expression in Cells EBV-transformed lymphocytes (54.9 TPM) and Testis (33.1 TPM).
Meier-Gorlin syndrome 3 is caused by mutations in the ORC6 gene on chromosome 16.
The ORC6 protein participates in ORC6 translocates to the nucleus pathway.
ORC6 is classified as a druggable target with score 0.0.
Genetic testing for ORC6 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Meier-Gorlin syndrome 3 has been reported in the published literature.
Phenotype severity distribution: 9 always present features, 6 common features.
No clinical trials have been registered for Meier-Gorlin syndrome 3.
7 publications have been identified in PubMed for Meier-Gorlin syndrome 3. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).
Sezer A (2026). [PMID: 41612845](https://pubmed.ncbi.nlm.nih.gov/41612845/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Zhuang J (2026). [PMID: 41620759](https://pubmed.ncbi.nlm.nih.gov/41620759/). *Hum Genomics*. [Basic Science / Preclinical]
Balasov M (2025). [PMID: 40986665](https://pubmed.ncbi.nlm.nih.gov/40986665/). *Genetics*. [Basic Science / Preclinical]
Zemet R (2025). [PMID: 40423626](https://pubmed.ncbi.nlm.nih.gov/40423626/). *Prenat Diagn*. [Diagnostic / Biomarker]
Mehrjoo Y (2024). [PMID: 38773883](https://pubmed.ncbi.nlm.nih.gov/38773883/). *Clin Genet*. [Case Report / Case Series]
Li Q (2024). [PMID: 39789585](https://pubmed.ncbi.nlm.nih.gov/39789585/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Meier-Gorlin syndrome 3
Lungs and breathing | 3 | Bronchomalacia, Recurrent pneumonia, Dyspnea |
Head and neck | 3 | Microcephaly, Hypoplasia of the maxilla, Triangular face |
Digestive system | 2 | Gastroesophageal reflux, Feeding difficulties |
Bones and joints | 2 | Delayed skeletal maturation, Slender long bone |
Brain and nerves | 1 | Delayed speech and language development |
Schoch K (2024). [PMID: 38467731](https://pubmed.ncbi.nlm.nih.gov/38467731/). *Eur J Hum Genet*. [Basic Science / Preclinical]