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2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.
ResearchLimited published research (3 articles)
Diagnosis
Biomarker and diagnostic research for 2q33.1 microdeletion syndrome has been reported in the published literature.
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for 2q33.1 microdeletion syndrome.
4 publications have been identified in PubMed for 2q33.1 microdeletion syndrome. Kisho has analyzed 3 by research type. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).
Recent Publications
Su L (2025). [PMID: 41186686](https://pubmed.ncbi.nlm.nih.gov/41186686/). *Archives of gynecology and obstetrics*. [Diagnostic / Biomarker]
Brakta C (2024). [PMID: 39578275](https://pubmed.ncbi.nlm.nih.gov/39578275/). *Journal of clinical immunology*. [Basic Science / Preclinical]
Shimojima Yamamoto K (2024). [PMID: 38972777](https://pubmed.ncbi.nlm.nih.gov/38972777/). *Brain & development*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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.
