2011 Group Project 9: Difference between revisions
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*growth abnormalities | *growth abnormalities | ||
*endocrine abnormalities | *endocrine abnormalities | ||
*a unique personality and cognitive profile <ref name="PMID20425781"><pubmed>2042578 </pubmed></ref> <ref name="PMID19568270"><pubmed>19568270 </pubmed></ref | *a unique personality and cognitive profile <ref name="PMID20425781"><pubmed>2042578 </pubmed></ref> <ref name="PMID19568270"><pubmed>19568270 </pubmed></ref> | ||
Some or all of these features may be present in varying degrees | Some or all of these features may be present in varying degrees | ||
| Line 37: | Line 37: | ||
==Genetic factors and Etiology== | ==Genetic factors and Etiology== | ||
Williams Syndrome, a genomic disorder, occurs due to a hemizygous deletion/nonallelic homologous recombination(NAHR) spanning 1.55 or 1.84Mb on chromosome 7q11.23 which encompasses 28 genes.<ref name="PMID20425781"><pubmed>2042578 </pubmed></ref> <ref name="PMID19568270"><pubmed>19568270 </pubmed></ref> | Williams Syndrome, a genomic disorder, occurs due to a hemizygous deletion/nonallelic homologous recombination(NAHR) spanning 1.55 or 1.84Mb on chromosome 7q11.23 which encompasses 28 genes.<ref name="PMID20425781"><pubmed>2042578 </pubmed></ref> <ref name="PMID19568270"><pubmed>19568270 </pubmed></ref> | ||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 15:56, 3 September 2011
| Note - This page is an undergraduate science embryology student group project 2011. |
Your Project Goes Here.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip
Williams-Beuren Syndrome
Introduction
Williams-Beuren Syndrome, more commonly known as William’s Syndrome, is a congenital anomaly caused by the deletion of 28 neighbouring genes on chromosome 7q11.23.[1] [2]
This multisystem developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:
- distinctive facial deformities
- cardiovascular abnormalities
- connective tissue abnormalities
- intellectual disabilities/mental retardation
- growth abnormalities
- endocrine abnormalities
- a unique personality and cognitive profile [1] [3]
Some or all of these features may be present in varying degrees
History of the disease
Timeline
Genetic factors and Etiology
Williams Syndrome, a genomic disorder, occurs due to a hemizygous deletion/nonallelic homologous recombination(NAHR) spanning 1.55 or 1.84Mb on chromosome 7q11.23 which encompasses 28 genes.[1] [3]
Diagnosis
Physical Characteristics
Growth
Facial abnormailities
Skeletal Abnormalities
Cardiac Conditions
Stenosis
Other problems
Genitourinary
Renal Tract Abnormalities
18% of people with Williams Syndrome have some form of renal tract abnormality. This includes:
Renal Agenesis
Duplicated kidneys
Vesicourinary reflux
Nephrocalcinosis
Other Abnormalities
There are a number of other abnormalities associated with Williams Syndrome including a hoarse voice, inguinal hernias and joint abnormalities. These abnormalities vary in severity between different individuals and elastin haploinsufficiency is responsible for a number of these abnormalities characteristic of Williams Syndrome.[4]
Endocrine
Hypercalcemia
Diabetes Mellitus
Thyroid
Other Associated Medical Conditions
Joint Abnormalities : info
Inguinal Hernias : info
Auditory Abnormalities : [5]
Anxiety Disorders : It has been found that when compared to the general population, children with Williams syndrome have a significantly higher rate of anxiety related disorders. They particularly showed a higher occurrence of generalised anxiety disorder and specific phobia disorder. [6]
Vocal cord paralysis : info
Hoarse Voice : The hoarse voice is present in 98% of people with Williams Syndrome and it is due to a connective tissue abnormality, where the lamina propria in the vocal folds has a decreased amount of elastic fibres.
Cognitive, Behavioural and Neurological Problems
Speech impairment
Social use of language
Sociability
Musical ability
Epidemiology
Management
Treatment
Currently, there is no cure for Williams Syndrome as it is a complex multisystem medical condition. Regular cardiovascular monitoring is required for those with Williams Syndrome.
Rate of Incidence
Specialised Facilities and Supportive Associations
Case studies
Interesting facts
Current research and developments
Glossary
Congenital anomaly:
Hemizygous:
Nonallelic homozygous recombination(NAHR):
Phenotype:
Hypercalcemia:
