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Revision as of 22:55, 30 August 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 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
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]
Hoarse Voice
Inguinal Hernia
Joint Abnormalities
Auditory 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: