Difference between revisions of "2011 Group Project 9"

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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===
  
===Timeline===
 
  
 
==Etiology==
 
==Etiology==
  
 +
==Genetic factors==
  
==Diagnosis==
+
===Cause===
  
  
==Genetic Factors==
+
==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==
  
'''Cranial Abnormalities'''
+
===Growth===
  
'''Facial Abnormalities'''
+
===Facial abnormailities===
  
'''Short Stature'''
+
===Skeletal Abnormalities===
  
==Associated medical conditions==
 
  
==='''Cardiac Abnormalities'''===
+
==Cardiac Conditions==
  
====Supravalvular aortic stenosis====
+
===Stenosis===
  
====Valvular aortic stenosis====
+
===Other problems===
  
====Bicuspid aortic valve====
 
  
====Mitral valve prolapse====
+
==Genitourinary==
  
====Mitral regurgitation====
+
===Renal Tract Abnormalities===
  
====Coronary artery stenosis====
+
18% of people with Williams Syndrome have some form of renal tract abnormality. This includes:
  
====Pulmonary valve stenosis====
+
'''Renal Agenesis'''
  
====Atrial septal defect====
+
'''Duplicated kidneys'''
  
====Ventricular septal defect====
+
'''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===
  
===Renal Tract Abnormalities===
 
  
18% of people with Williams Syndrome have some form of renal tract abnormality. This includes:
+
==Other Associated Medical Conditions==
  
====Renal Agenesis====  
+
===Skeletal===
  
====Duplicated kidneys====  
+
===Hoarse Voice===
  
====Vesicourinary reflux====
+
===Inguinal Hernia===
  
====Nephrocalcinosis====
+
===Joint Abnormalities===
  
==='''Other Abnormalities'''===
+
===Auditory 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>
+
===Anxiety Disorders===
  
====Hoarse Voice====
+
===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====
+
===Inguinal Hernia===
  
====Joint Abnormalities====
+
===Joint Abnormalities===
  
====Auditory Abnormalities====
+
===Auditory Abnormalities===
 
<ref name="PMID20425785"><pubmed>20425785 </pubmed></ref>
 
<ref name="PMID20425785"><pubmed>20425785 </pubmed></ref>
  
====Anxiety Disorders====
+
===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'''
+
===Speech impairment===
  
'''Social use of language'''
+
===Social use of language===
  
'''Sociability'''
+
===Sociability===
 +
 
 +
===Musical ability===
  
'''Musical ability'''
 
  
 
==Epidemiology==
 
==Epidemiology==
  
 +
===Management===
  
==Management/treatment==
+
===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.  
  
==Specialized Facilities/ supportive associations==
+
===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.
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

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

[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]


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>