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Rare Disease Database

syndromic X-linked intellectual disability 5

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Disease Overview

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.

Synonyms

  • Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
  • MRX59
  • MRXS21
  • MRXS5
  • PETTIGREW syndrome
  • PGS
  • Pettigrew syndrome
  • Pettigrew syndrome, X-linked recessive
  • X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures
  • X-linked intellectual disability 59
  • X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  • X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
  • X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome
  • X-linked mental retardation 59
  • X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
  • fried syndrome
  • intellectual disability X-linked syndromic 5
  • intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures
  • intellectual disability, X-linked 59
  • intellectual disability, X-linked syndromic 5
  • intellectual disability, X-linked, syndromic 21
  • intellectual disability, X-linked, syndromic 5
  • intellectual disability, X-linked, syndromic, fried type
  • intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
  • mental retardation X-linked syndromic 5
  • mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures
  • mental retardation, X-linked 59
  • mental retardation, X-linked syndromic 5
  • mental retardation, X-linked, syndromic 21
  • mental retardation, X-linked, syndromic 5
  • mental retardation, X-linked, syndromic, fried type
  • mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
  • syndromic X-linked intellectual disability 21
  • syndromic X-linked intellectual disability fried type
  • syndromic X-linked intellectual disability type 5
  • syndromic X-linked mental retardation 21
  • syndromic X-linked mental retardation fried type
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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