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
Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.
Features include: Strabismus, Seizure, Low muscle tone (hypotonia), and Sleep disturbance and 26 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 5 | Facial hypertrichosis, High palate, Microcephaly |
Brain and nerves |
Biomarker and diagnostic research for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion has been reported in the published literature.
No clinical trials have been registered for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion.
10 publications have been identified in PubMed for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 3 | 30% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:43 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
3
Seizure, Intellectual disability, Global developmental delay |
Eyes | 1 | Strabismus |
Muscles | 1 | Low muscle tone (hypotonia) |
Heart and blood vessels | 1 | Hypoplastic left heart |
Growth and development | 1 | Failure to thrive |
Blood and immune system | 1 | Recurrent infections |
Digestive system | 1 | Feeding difficulties in infancy |
Kidneys and urinary system | 1 | Abnormality of the kidney |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Arms and legs | 1 | Clinodactyly of the 5th finger |
Laboratory research |
3 |
30% |
Disease patterns and progression | 2 | 20% |
Testing and diagnosis research | 1 | 10% |
Research summaries | 1 | 10% |
Tang Y (2026). [PMID: 41758603](https://pubmed.ncbi.nlm.nih.gov/41758603/). *Hum Mol Genet*. [Basic Science / Preclinical]
Pavinato L (2025). [PMID: 39603792](https://pubmed.ncbi.nlm.nih.gov/39603792/). *Clin Genet*. [Basic Science / Preclinical]
Sharma R (2025). [PMID: 40716588](https://pubmed.ncbi.nlm.nih.gov/40716588/). *Gene*. [Case Report / Case Series]
Ningan X (2025). [PMID: 41168794](https://pubmed.ncbi.nlm.nih.gov/41168794/). *BMC Med Genomics*. [Basic Science / Preclinical]
Carmant LS (2025). [PMID: 40195020](https://pubmed.ncbi.nlm.nih.gov/40195020/). *Prenat Diagn*. [Review / Meta-Analysis]
Humeedat M (2025). [PMID: 40760536](https://pubmed.ncbi.nlm.nih.gov/40760536/). *Medicine (Baltimore)*. [Case Report / Case Series]
Cieślikowska A (2025). [PMID: 41153422](https://pubmed.ncbi.nlm.nih.gov/41153422/). *Genes (Basel)*. [Epidemiology / Natural History]
Klein Haneveld MJ (2025). [PMID: 40083267](https://pubmed.ncbi.nlm.nih.gov/40083267/). *J Intellect Disabil Res*. [Epidemiology / Natural History]
Erkan DD (2025). [PMID: 40475176](https://pubmed.ncbi.nlm.nih.gov/40475176/). *Mol Syndromol*. [Case Report / Case Series]
Yu QX (2025). [PMID: 41170948](https://pubmed.ncbi.nlm.nih.gov/41170948/). *Prenat Diagn*. [Diagnostic / Biomarker]