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Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
Features include: Preauricular skin tag, Seizure, Retinal coloboma, and Camptodactyly of finger and 32 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 4 | Camptodactyly of finger, Clinodactyly of the 5th toe, Overlapping fingers |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Kapur-Toriello syndrome.
1 publication has been identified in PubMed for Kapur-Toriello syndrome. Research spans Epidemiology / Natural History (100%).
Bartek V (2024). [PMID: 39062246](https://pubmed.ncbi.nlm.nih.gov/39062246/). *Children (Basel)*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:08 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Kapur-Toriello syndrome
3 |
Seizure, Severe intellectual disability, Intellectual disability |
Eyes | 2 | Retinal coloboma, Cataract |
Heart and blood vessels | 2 | Ventricular septal defect, Atrial septal defect |
Digestive system | 2 | Constipation, Intestinal malrotation |
Head and neck | 2 | Cleft palate, Cleft upper lip |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Joint contracture of the hand |
Skin | 1 | Preauricular skin tag |
Kidneys and urinary system | 1 | Abnormality of the urinary system |
Muscles | 1 | Joint contracture of the hand |
Ears | 1 | Conductive hearing impairment |
Growth and development | 1 | Intrauterine growth retardation |