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7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
Features include very common findings: Cryptorchidism, Abnormality of the kidney, Macrocephaly, and Hypertelorism and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Macrocephaly, Abnormal facial shape |
Brain and nerves |
Phenotype severity distribution: 11 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 7p22.1 microduplication syndrome.
2 publications have been identified in PubMed for 7p22.1 microduplication syndrome. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).
Nakatochi M (2025). [PMID: 39403837](https://pubmed.ncbi.nlm.nih.gov/39403837/). *Psychiatry and clinical neurosciences*. [Epidemiology / Natural History]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes (Basel)*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about 7p22.1 microduplication syndrome
2 |
Delayed speech and language development, Global developmental delay |
Kidneys and urinary system | 1 | Abnormality of the kidney |
Bones and joints | 1 | Bone and joint problems (abnormality of the skeletal system) |
Heart and blood vessels | 1 | Abnormal heart morphology |
AI-curated news mentioning 7p22.1 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.