Jordan's syndrome

Jordan's syndrome
Other namesPPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35(MRD35)
SpecialtyPsychiatry, pediatrics, occupational medicine, neurology, ophthalmology
SymptomsMild to severe global developmental delay, seizure, macrocephaly, hypotonia, autism, dysmorphic facial features
DurationLifelong
CausesHeterozygous PPP2R5D mutation
Diagnostic methodMolecular genetic testing
Differential diagnosisCowden syndrome, Sotos syndrome, Smith-Kingsmore syndrome, M-CM, MPPH, 9q34 deletion syndrome, 16p11.2 deletion syndrome
ManagementOccupational therapy, physical therapy, speech therapy, applied behavior analysis
Frequency23 (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. Also see Houge-Janssens Syndrome as 2R5D is a subunit of protein phosphatase type 2A (PP2A).

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