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Coverage: 2020-01-01 onwards, 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.
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Cornelia de Lange 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.
Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.
Macchiaiolo Marina et al., American journal of medical genetics. Part A (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42124512/
- 2.
Espectro Cornelia de Lange: conocimiento clínico y molecular y retos diagnósticos
Cristina Lucia Campos et al., Archivos de la Facultad de Medicina de Zaragoza (22 September 2026)
https://doi.org/10.26754/ojs_afmz/afmz.2026313805
- 3.
Implicaciones del mosaicismo postcigótico en el diagnóstico y manejo del síndrome Cornelia de Lange
Marta Gil Salvador et al., Archivos de la Facultad de Medicina de Zaragoza (22 September 2026)
https://doi.org/10.26754/ojs_afmz/afmz.2026313807
- 4.
EP10.68: Diagnostic challenges in Cornelia de Lange syndrome: case series
T. Borkowski Tillman et al., Ultrasound in Obstetrics and Gynecology (31 August 2026)
https://doi.org/10.1002/uog.70305_800
- 5.
Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndrome
Ramakrishnan Rajagopalan et al., npj Genomic Medicine (12 August 2026)
https://doi.org/10.1038/s41525-026-00602-y
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.
Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a rare genetic condition affecting multiple organ systems, caused by mutations in cohesin complex genes, most commonly NIPBL. It causes intellectual disability, growth retardation, limb abnormalities, and distinctive facial features. Severity varies widely and multidisciplinary care is central to management.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by growth restriction, intellectual disability, skeletal anomalies, and distinctive craniofacial features. We present two pediatric cases of CdLS with previously undescribed cerebrovascular malformations. Cerebrovascular anomalies have not yet been systematically reported in CdLS. Both patients share similar clinical features and comparable complex vascular patterns, including a right aortic arch and an isolated common trunk for the left vertebral and subclavian arteries. The left cerebral hemisphere is primarily supplied via contralateral vessels. These findings suggest a potential link between cohesin gene variants and cerebrovascular development, warranting further investigation into the role of these genes in angiogenesis and the neurovascular phenotypes of CdLS.
Common Questions
What is Cornelia de Lange Syndrome?
Cornelia de Lange syndrome is a rare genetic condition affecting multiple organ systems, caused by mutations in cohesin complex genes, most commonly NIPBL. It causes intellectual disability, growth retardation, limb abnormalities, and distinctive facial features. Severity varies widely and multidisciplinary care is central to management.
How many clinical trials are available for Cornelia de Lange Syndrome?
RareWays currently indexes 3 clinical trials for Cornelia de Lange Syndrome, of which 2 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Cornelia de Lange 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.
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