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8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for 8p23.1 duplication syndrome.
4 publications have been identified in PubMed for 8p23.1 duplication syndrome. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).
Kikas T (2026). [PMID: 41338233](https://pubmed.ncbi.nlm.nih.gov/41338233/). *Hum Reprod*. [Epidemiology / Natural History]
Yang X (2025). [PMID: 40790240](https://pubmed.ncbi.nlm.nih.gov/40790240/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Karsan Ç (2024). [PMID: 38671247](https://pubmed.ncbi.nlm.nih.gov/38671247/). *Eur Child Adolesc Psychiatry*. [Case Report / Case Series]
Nord P (2024). [PMID: 39352580](https://pubmed.ncbi.nlm.nih.gov/39352580/). *Pediatr Surg Int*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about 8p23.1 duplication syndrome
AI-curated news mentioning 8p23.1 duplication syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.