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Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
Features include: Epicanthus, Opacification of the corneal stroma, Toe syndactyly, and Short stature and 63 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 9 | Toe syndactyly, Preaxial foot polydactyly, Deviation of finger |
Head and neck |
RAB23 function has not been fully characterized.
RAB23-related Carpenter syndrome is caused by mutations in the RAB23 gene on chromosome 6.
Genetic testing for RAB23 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for RAB23-related Carpenter syndrome.
14 publications have been identified in PubMed for RAB23-related Carpenter syndrome. Research spans Basic Science / Preclinical (62%), Case Report / Case Series (31%), and Review / Meta-Analysis (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 8 | 62% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about RAB23-related Carpenter syndrome
5 |
Lambdoidal craniosynostosis, Sagittal craniosynostosis, Coronal craniosynostosis |
Brain and nerves | 3 | Intellectual disability, Brain shrinkage (cerebral atrophy), Depressed nasal bridge |
Muscles | 3 | Damage to the optic nerve (optic atrophy), Brain shrinkage (cerebral atrophy), Joint contracture of the hand |
Eyes | 2 | Opacification of the corneal stroma, Damage to the optic nerve (optic atrophy) |
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment |
Heart and blood vessels | 2 | Ventricular septal defect, Atrial septal defect |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Joint contracture of the hand |
Growth and development | 1 | Short stature |
Hormones | 1 | Precocious puberty |
Patient case studies
4 |
31% |
Research summaries | 1 | 8% |
Rashidi K (2026). [PMID: 41826279](https://pubmed.ncbi.nlm.nih.gov/41826279/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Upadhyai P (2025). [PMID: 40395934](https://pubmed.ncbi.nlm.nih.gov/40395934/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Süncak S (2025). [PMID: 41188448](https://pubmed.ncbi.nlm.nih.gov/41188448/). *Journal of human genetics*. [Basic Science / Preclinical]
Xu S (2025). [PMID: 39778777](https://pubmed.ncbi.nlm.nih.gov/39778777/). *Biochimica et biophysica acta. Molecular basis of disease*. [Basic Science / Preclinical]
Harris RE (2025). [PMID: 40867536](https://pubmed.ncbi.nlm.nih.gov/40867536/). *Biomolecules*. [Basic Science / Preclinical]
Hasan MR (2025). [PMID: 40261407](https://pubmed.ncbi.nlm.nih.gov/40261407/). *Cellular and molecular life sciences : CMLS*. [Basic Science / Preclinical]
Chau YY (2025). [PMID: 39615683](https://pubmed.ncbi.nlm.nih.gov/39615683/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Burrill N (2025). [PMID: 39780448](https://pubmed.ncbi.nlm.nih.gov/39780448/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Leong WY (2025). [PMID: 40825043](https://pubmed.ncbi.nlm.nih.gov/40825043/). *PLoS genetics*. [Case Report / Case Series]
Williams C (2025). [PMID: 41000701](https://pubmed.ncbi.nlm.nih.gov/41000701/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
AI-curated news mentioning RAB23-related Carpenter syndrome
Updated Mar 13, 2026
Recent research identifies novel variants in the MEGF8 gene as the cause of Carpenter Syndrome Type 2, utilizing combined long-read genome and transcriptome sequencing. This discovery enhances understanding of the genetic basis of this rare condition.