Also Known As
MRX59MRXS21Pettigrew syndromePettigrew syndrome, X-linked recessiveX-linked intellectual disability 59X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndromeX-linked mental retardation 59X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizuresintellectual disability, X-linked syndromic 5mental retardation, X-linked syndromic 5syndromic X-linked intellectual disability 21syndromic X-linked intellectual disability fried typesyndromic X-linked intellectual disability type 5syndromic X-linked mental retardation 21syndromic X-linked mental retardation fried typeDandy-Walker malformation with intellectual disability, basal ganglia disease and seizuresMRXS5PETTIGREW syndromePGSX-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizuresfried syndromeintellectual disability X-linked syndromic 5intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizuresintellectual disability, X-linked 59intellectual disability, X-linked, syndromic 21intellectual disability, X-linked, syndromic 5intellectual disability, X-linked, syndromic, fried typeintellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizuresmental retardation X-linked syndromic 5mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizuresmental retardation, X-linked 59mental retardation, X-linked, syndromic 21mental retardation, X-linked, syndromic 5mental retardation, X-linked, syndromic, fried typemental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
Definition
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.