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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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
Microcephaly
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
Seizure
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
Intellectual disability, severe
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
Spasticity
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
Congenital hip dislocation
Dislocated hip since birth
0001374
Contractures of the large joints
0005781
Dandy-Walker malformation
0001305
Dilation of lateral ventricles
0006956
Equinovarus deformity
0008110
Large fontanelles
Wide fontanelles
0000239
Macrotia
Large ears
0000400
Micrognathia
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 hypotonia
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
X-linked inheritance
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.