Rare Dermatology News
Advertisement
Disease Profile
Severe X-linked intellectual disability, Gustavson type
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
Infancy
ICD-10
F72.9
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)
GUST; Gustavson syndrome
Categories
Congenital and Genetic Diseases; Eye 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: 3078
Definition
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly , post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity , epileptic seizures , restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.
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 | ||
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Optic atrophy | 0000648 | |
| Profound hearing impairment | 0012715 | |
| 0001250 | ||
| Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ] |
0008850 |
| 30%-79% of people have these symptoms | ||
| Apneic episodes in infancy | 0005949 | |
| Blindness | 0000618 | |
| Brain atrophy |
Brain degeneration
Brain wasting
[ more ] |
0012444 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
| Nasogastric tube feeding | 0040288 | |
| Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
| Small fontanelle |
Small soft spot
|
0005486 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| 5%-29% of people have these symptoms | ||
| Calcaneovalgus deformity | 0001848 | |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
|
Dislocated hip since birth
|
0001374 | |
| 0005781 | ||
| Dandy-Walker malformation | 0001305 | |
| Dilation of lateral ventricles | 0006956 | |
| Equinovarus deformity | 0008110 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Myoclonus | 0001336 | |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
| Severe muscular |
Severely decreased muscle tone
|
0006829 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Triphalangeal thumb |
Finger-like thumb
|
0001199 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Vesicoureteral reflux | 0000076 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Death in childhood | 0003819 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Restricted large joint movement | 0005193 | |
| Severely reduced visual acuity |
Marked vision impairment
Severe visual impairment
Severely impaired vision
[ more ] |
0001141 |
| 0001417 | ||
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 Severe X-linked intellectual disability, Gustavson type. Click on the link to view a sample search on this topic.