2011 Group Project 9: Difference between revisions
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*infantile hypercalcemia | *infantile hypercalcemia | ||
*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> | ||
==History of the disease== | ==History of the disease== | ||
===Timeline=== | |||
==Etiology== | ==Etiology== | ||
==Genetic factors== | |||
== | ===Cause=== | ||
== | ==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> | 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> | ||
==Physical Characteristics== | ==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.<ref name="PMID20425789"><pubmed>20425789 </pubmed></ref> | |||
==Endocrine== | |||
===Hypercalcemia=== | |||
===Diabetes Mellitus=== | |||
===Thyroid=== | |||
==Other Associated Medical Conditions== | |||
=== | ===Skeletal=== | ||
=== | ===Hoarse Voice=== | ||
=== | ===Inguinal Hernia=== | ||
=== | ===Joint Abnormalities=== | ||
=== | ===Auditory Abnormalities=== | ||
===Anxiety Disorders=== | |||
===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. | 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=== | |||
<ref name="PMID20425785"><pubmed>20425785 </pubmed></ref> | <ref name="PMID20425785"><pubmed>20425785 </pubmed></ref> | ||
===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. <ref name="PMID20161441"><pubmed>20161441 </pubmed></ref> | 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. <ref name="PMID20161441"><pubmed>20161441 </pubmed></ref> | ||
==Cognitive, Behavioural and Neurological Problems== | ==Cognitive, Behavioural and Neurological Problems== | ||
===Speech impairment=== | |||
===Social use of language=== | |||
===Sociability=== | |||
===Musical ability=== | |||
==Epidemiology== | ==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. | 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== | |||
Revision as of 13:18, 1 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 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
Genetic factors
Cause
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.[1] [3]
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
Skeletal
Hoarse Voice
Inguinal Hernia
Joint Abnormalities
Auditory Abnormalities
Anxiety Disorders
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.
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:
