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The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
Biomarker and diagnostic research for 5q35 microduplication syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 5q35 microduplication syndrome.
8 publications have been identified in PubMed for 5q35 microduplication syndrome. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (25%), and Other (13%).
Kim S (2026). [PMID: 41804817](https://pubmed.ncbi.nlm.nih.gov/41804817/). *Am J Med Genet A*. [Case Report / Case Series]
Feldman ER (2025). [PMID: 40407036](https://pubmed.ncbi.nlm.nih.gov/40407036/). *Genet Epidemiol*. [Epidemiology / Natural History]
Şen Küçük K (2025). [PMID: 40995982](https://pubmed.ncbi.nlm.nih.gov/40995982/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Zhu W (2025). [PMID: 39823103](https://pubmed.ncbi.nlm.nih.gov/39823103/). *World J Clin Cases*. [Other]
Carrasco Salas P (2025). [PMID: 41230204](https://pubmed.ncbi.nlm.nih.gov/41230204/). *Mol Syndromol*. [Diagnostic / Biomarker]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:21 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about 5q35 microduplication syndrome
Feldman ER (2024). [PMID: 39281767](https://pubmed.ncbi.nlm.nih.gov/39281767/). *medRxiv*. [Epidemiology / Natural History]
Yang YJ (2024). [PMID: 39109012](https://pubmed.ncbi.nlm.nih.gov/39109012/). *World J Clin Cases*. [Case Report / Case Series]
AI-curated news mentioning 5q35 microduplication 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.