Difference between revisions of "2011 Group Project 9"

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==Etiology==
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==Genetic factors and Etiology==
 
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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>
==Genetic factors==
 
 
 
===Cause===
 
  
  
 
==Diagnosis==
 
==Diagnosis==
 
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>
 
  
  

Revision as of 15:40, 3 September 2011

Note - This page is an undergraduate science embryology student group project 2011.
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




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
  • a short stature
  • intellectual disabilities/mental retardation
  • cardiovascular abnormalities
  • infantile hypercalcemia
  • a unique personality and cognitive profile.

Some or all of these features may be present in varying degrees [1] [3]

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:

References

  1. 1.0 1.1 1.2 <pubmed>2042578 </pubmed>
  2. http://omim.org/entry/194050
  3. 3.0 3.1 <pubmed>19568270 </pubmed>
  4. <pubmed>20425789 </pubmed>
  5. <pubmed>20425785 </pubmed>
  6. <pubmed>20161441 </pubmed>