2011 Group Project 9
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
Cranial Abnormalities
Facial Abnormalities
Short Stature
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
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
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
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.
Inguinal Hernia
Joint Abnormalities
Auditory Abnormalities
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]
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.
Specialized Facilities/ supportive associations
Case studies
Interesting facts
Current research and developments
Glossary
Congenital anomaly:
Hemizygous:
Nonallelic homozygous recombination(NAHR):
Phenotype:
Hypercalcemia: