Williams-Beuren Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases
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Aliases & Descriptions for Williams-Beuren Syndrome:
Orphanet epidemiological data:53
Inheritance: Not applicable; Prevalence: 1-5/10000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal,Neonatal
Penetrance: penetrance is 100%; expression of the phenotypic features is variable...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis
NINDS:48 Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic ?cognitive profile? of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
MalaCards based summary: Williams-Beuren Syndrome, also known as williams syndrome, is related to autosomal recessive infantile hypercalcemia and zori stalker williams syndrome, and has symptoms including wide mouth, abnormality of the tongue and thick lower lip vermilion. An important gene associated with Williams-Beuren Syndrome is ELN (Elastin). Affiliated tissues include heart, eye and brain.
Genetics Home Reference:25 Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
NIH Rare Diseases:47 Williams syndrome is a genetic condition that affects many parts of the body. It is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur sporadically, without other cases in the family. There is no cure yet. Treatments are based on an individual’s particular symptoms. Last updated: 9/9/2016
OMIM:51 Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome... (194050) more...
Wikipedia:70 Williams syndrome (WS) is a rare neurodevelopmental disorder characterized by: a distinctive, \"elfin\"... more...
GeneReviews for NBK1249
Human phenotypes related to Williams-Beuren Syndrome:63 53 (show all 257)
UMLS symptoms related to Williams-Beuren Syndrome:enuresis, hyperacusis, abnormal weight gain, chronic constipation
Drugs for Williams-Beuren Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 585)
Interventional clinical trials:(show top 50) (show all 434)
Search NIH Clinical Center for Williams-Beuren Syndrome
MalaCards organs/tissues related to Williams-Beuren Syndrome:35
Heart, Eye, Brain, Kidney, Skin, Bone, Lung
Articles related to Williams-Beuren Syndrome:(show top 50) (show all 297)
Clinvar genetic disease variations for Williams-Beuren Syndrome:5 (show all 30)
Copy number variations for Williams-Beuren Syndrome from CNVD:6 (show top 50) (show all 239)
Search GEO for disease gene expression data for Williams-Beuren Syndrome.
Biological processes related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Williams-Beuren Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet