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A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
Biomarker and diagnostic research for 9q21.13 microdeletion syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 9q21.13 microdeletion syndrome.
5 publications have been identified in PubMed for 9q21.13 microdeletion syndrome. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).
Jiang L (2025). [PMID: 40692708](https://pubmed.ncbi.nlm.nih.gov/40692708/). *Front Genet*. [Review / Meta-Analysis]
Wójtowicz A (2024). [PMID: 39410589](https://pubmed.ncbi.nlm.nih.gov/39410589/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Yue F (2024). [PMID: 38784233](https://pubmed.ncbi.nlm.nih.gov/38784233/). *Front Med (Lausanne)*. [Epidemiology / Natural History]
Andersen RE (2024). [PMID: 38946951](https://pubmed.ncbi.nlm.nih.gov/38946951/). *medRxiv*. [Basic Science / Preclinical]
Andersen RE (2024). [PMID: 39060644](https://pubmed.ncbi.nlm.nih.gov/39060644/). *Hum Genet*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 1:42 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about 9q21.13 microdeletion syndrome
AI-curated news mentioning 9q21.13 microdeletion 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.