National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures


Other Names:
Mental retardation X-linked syndromic 5; Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures; Pettigrew syndrome; Mental retardation X-linked syndromic 5; Mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures; Pettigrew syndrome; MRXS5; PGS; X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1568

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 (see this term), and iron deposition.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Inguinal hernia 0000023
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Dandy-Walker malformation 0001305
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Percent of people who have these symptoms is not available through HPO
Abnormality of the basal ganglia 0002134
Choreoathetosis 0001266
Coarse facial features
Coarse facial appearance
0000280
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
High-frequency hearing impairment
Hearing loss, high-frequency
High frequency hearing loss
Progressive high frequency hearing loss
[ more ] 		0005101
Hyperreflexia
Increased reflexes
0001347
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] 		0000448
Scoliosis 0002650
Seizure 0001250
Self-injurious behavior
Self-injurious behaviour
0100716
Sensorineural hearing impairment 0000407
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] 		0012471
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
X-linked inheritance 0001417
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. Click on the link to view a sample search on this topic.

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