Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 17q24.2 microdeletion syndrome.
1 publication has been identified in PubMed for 17q24.2 microdeletion syndrome. Research spans Basic Science / Preclinical (100%).
Kato K (2025). [PMID: 41258531](https://pubmed.ncbi.nlm.nih.gov/41258531/). *Hum Cell*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning 17q24.2 microdeletion syndrome
Updated Feb 19, 2026
Key neurology trials are set to report data in early 2026, including the ADEPT-2 study on xanomeline/trospium for Alzheimer's psychosis and the ELEVATE-PD trial on IPX203 for Parkinson's. These studies may introduce new therapies and impact treatment strategies for Alzheimer's and Parkinson's disease.
FDA approves ScinoPharm Taiwan’s glatiramer acetate injection for relapsing multiple sclerosis, marking the first complex injectable generic approval for this therapy. Additionally, Alkermes receives breakthrough therapy designation for alixorexton, an oral treatment for narcolepsy type 1.