Difference between revisions of "2011 Group Project 9"

From Embryology
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====Ventricular septal defect====
 
====Ventricular septal defect====
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==='''Other Abnormalities'''===
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====Hoarse Voice====
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====Inguinal Hernia====
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====Joint Abnormalities====
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==Cognitive, Behavioural and Neurological Problems==
 
==Cognitive, Behavioural and Neurological Problems==

Revision as of 21:37, 30 August 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 multisystemic 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. [1] [3]

History of the disease

Timeline

Etiology

Diagnosis

Genetic Factors

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]

Physical Characteristics

Associated medical conditions

Cardiac Abnormalities

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

Other Abnormalities

Hoarse Voice

Inguinal Hernia

Joint Abnormalities

Cognitive, Behavioural and Neurological Problems

Epidemiology

Management/treatment

Specialized Facilities/ 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>