Rare Pulmonology News
Disease Profile
Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Neonatal
ICD-10
Q23.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Pettigrew syndrome; PGS; X-linked intellectual disability Dandy-Walker malformation basal ganglia disease Seizures;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1568
Definition
Visit the Orphanet disease page for more resources.
Symptoms
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.
| 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 |
|
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 | |
|
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 |
Flexed joint that cannot be straightened
|
0001371 |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Global |
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 |
|
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 |
| 0002650 | ||
| 0001250 | ||
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Sensorineural hearing impairment | 0000407 | |
|
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 |
| 0001417 | ||
| 0001419 | ||
Learn more
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.