Jordan's syndrome
| Jordan's syndrome | |
|---|---|
| Other names | PPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35(MRD35) |
| Specialty | Psychiatry, pediatrics, occupational medicine, neurology, ophthalmology |
| Symptoms | Mild to severe global developmental delay, seizure, macrocephaly, hypotonia, autism, dysmorphic facial features |
| Duration | Lifelong |
| Causes | Heterozygous PPP2R5D mutation |
| Diagnostic method | Molecular genetic testing |
| Differential diagnosis | Cowden syndrome, Sotos syndrome, Smith-Kingsmore syndrome, M-CM, MPPH, 9q34 deletion syndrome, 16p11.2 deletion syndrome |
| Management | Occupational therapy, physical therapy, speech therapy, applied behavior analysis |
| Frequency | 23 (2019) |
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder.