Chopra–Amiel–Gordon syndrome
| Chopra–Amiel–Gordon syndrome | |
|---|---|
| Other names | ANKRD17-related neurodevelopmental syndrome, CAGS |
| Specialty | Medical genetics, neurology |
| Symptoms | Developmental delay, speech delay, intellectual disability, dysmorphic facial features, epilepsy, ophthalmologic abnormalities, recurrent infections |
| Usual onset | Infancy |
| Causes | Pathogenic variants in ANKRD17 (autosomal dominant) |
| Risk factors | Mostly de novo; some familial cases |
| Diagnostic method | Clinical evaluation and confirmatory genetic testing |
| Treatment | Supportive and symptomatic management (multidisciplinary care) |
| Prognosis | Variable; quality of life depends on symptom severity |
| Frequency | <1 in 1 million |
Chopra–Amiel–Gordon syndrome (CAGS), also called ANKRD17‑related neurodevelopmental syndrome, is an ultra-rare genetic disorder characterized by developmental delay and variable intellectual disability, particularly affecting speech. It is caused by autosomal dominant loss‑of‑function variants of the ANKRD17 gene on chromosome 4, which encodes ankyrin repeat domain‑containing protein 17. The syndrome was first delineated in 2021 by researchers Maya Chopra, Jeanne Amiel and Christopher T. Gordon, after whom it is named.