RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Your saved research and appointment questionsView recorded trial and retraction changes
Potocki-Shaffer Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.
Yaga Takeshi et al., Pediatrics international : official journal of the Japan Pediatric Society (1 January 2023)
https://pubmed.ncbi.nlm.nih.gov/36321364/
- 2.
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
Trajkova Slavica et al., Brain sciences (28 October 2020)
https://pubmed.ncbi.nlm.nih.gov/33126574/
- 3.
Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.
Meng Yan et al., Hereditas (23 May 2020)
https://pubmed.ncbi.nlm.nih.gov/32446308/
- 4.
Hypertension in Potocki-Shaffer syndrome: A case report.
Wissman Scott D et al., European journal of medical genetics (1 January 2020)
https://pubmed.ncbi.nlm.nih.gov/30797056/
- 5.
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka Kohei et al., European journal of human genetics : EJHG (1 March 2019)
https://pubmed.ncbi.nlm.nih.gov/30487643/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Potocki-Shaffer Syndrome
Potocki-Shaffer syndrome is a very rare condition caused by the loss of a small piece of chromosome 11. It can involve multiple bony growths called exostoses, gaps in the skull bones known as parietal foramina, distinctive facial features, developmental delay and intellectual disability. Care is shared between specialists and may include orthopaedic surgery, early intervention and learning support.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Potocki-Shaffer Syndrome is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Common Questions
What is Potocki-Shaffer Syndrome?
Potocki-Shaffer syndrome is a very rare condition caused by the loss of a small piece of chromosome 11. It can involve multiple bony growths called exostoses, gaps in the skull bones known as parietal foramina, distinctive facial features, developmental delay and intellectual disability. Care is shared between specialists and may include orthopaedic surgery, early intervention and learning support.
How many clinical trials are available for Potocki-Shaffer Syndrome?
No clinical trials are currently indexed for Potocki-Shaffer Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Potocki-Shaffer Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Potocki-Shaffer Syndrome.
Your email and selected disease are stored for these updates. Unsubscribe any time. Privacy and deletion.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.