Williams Syndrome, (Happy Elf Syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
By Kenneth Kee
()
About this ebook
Williams syndrome is an infrequent disorder that can result in physical and mental development.
It is inherited (passed down in families).
Most people with Williams Syndrome are as friendly, happy and pure as the fairies found in the books of myths and tales.
The word "elfin" may have used to describe the facial features of people with Williams syndrome.
People believed that persons with the syndrome, who have extremely charming and kind personalities, had extraordinary, even magical, powers.
They look like the elves with their mischievous upturned noses, pointed chins and flashy smiles.
For these persons with distinct elf-like facial features, the goodness of heart and the vulnerability of trust are symptoms of a genetic disorder (Williams Syndrome) that affects an estimated 1 in 7,500 to 10,000 people.
In spite of their intellectual difficulties, they are chatty, witty and tremendously friendly and they tend to hug everyone they meet.
The syndrome is characterized by distinct facies, connective tissue anomalies, intellectual disability, a specific cognitive profile, unique personality features, cardiovascular disease, growth abnormalities and endocrine abnormalities
Williams syndrome is caused by micro-deletion (not having a copy) of several genes.
Parents may not have any family history of the disorder.
People with Williams syndrome have a 50% chance of passing the disorder on to each of their children.
It often happens randomly.
One of the 28 missing genes is the gene that produces elastin, a protein that permits blood vessels and other tissues in the body to stretch.
It is probable that missing a copy of this gene leads to the narrowing of blood vessels, stretchy skin, and flexible joints observed in this disorder.
Medical presentations of infantile hyper-calcemia are present from birth through to adulthood
The WS phenotype is variable that no single medical feature is needed to establish the diagnosis.
It should be suspected in patients with these findings:
1. Cardiovascular disease (elastin arteriopathy):
a. Supra-valvular aortic stenosis (SVAS) is the most frequent and medically significant disorder occurring in 75% of patients.
b. Peripheral pulmonic stenosis (PPS) is frequent in infancy even though any artery can be affected.
2. Distinct facies:
a. Broad forehead, bi-temporal narrowing, periorbital fullness.
b. Star-like iris pattern, strabismus.
c. Short nose with broad nasal tip.
d. Long philtrum, wide mouth with thick vermilion of upper and lower lips.
3. Connective tissue anomalies:
The diagnosis of Williams syndrome starts with recognition of physical symptoms and markers, which is followed by a confirmatory genetic test.
The physical signs that often implicate a suspected case of Williams syndrome are distension around the eyes, a long philtrum (groove on upper lip), and a star-like pattern in the iris.
The FISH test tests chromosome 7 and probes for the presence of two copies of the elastin gene.
Tests for Williams syndrome are:
1. Blood pressure check
2. Blood test for a missing piece of chromosome 7 (FISH test)
3. Echocardiography combined with Doppler ultrasound
4. Kidney ultrasound
Physical therapy is useful to treat patients with joint stiffness
TABLE OF CONTENT
Introduction
Chapter 1 Williams Syndrome
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Laughter
Chapter 8 Happiness
Epilogue
Kenneth Kee
Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"
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Williams Syndrome, (Happy Elf Syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee
Williams Syndrome,
(Happy Elf Syndrome)
A
Simple
Guide
To
The Condition,
Diagnosis,
Treatment
And
Related Conditions
By
Dr Kenneth Kee
M.B.,B.S. (Singapore)
Ph.D (Healthcare Administration)
Copyright Kenneth Kee 2017 Smashwords Edition
Published by Kenneth Kee at Smashwords.com
Dedication
This book is dedicated
To my wife Dorothy
And my children
Carolyn, Grace
And Kelvin
This book describes Williams Syndrome, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.
(What The patient Need to Treat Williams Syndrome)
This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If the patient would like to share this book with another person, please purchase an additional copy for each reader.
If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.
Thank the patient for respecting the hard work of this author.
Introduction
I have been writing medical articles for my blog http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.
My purpose in writing these simple guides was for the health education of my patients.
Health Education was also my dissertation for my Ph.D (Healthcare Administration).
I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.
This autobiolographical account A Family Doctor’s Tale
was combined with my early A Simple Guide to Medical Disorders
into a new Wordpress Blog A Family Doctor’s Tale
on http://kenkee481.wordpress.com.
From which many free articles from the blog was taken and put together into 800 amazon kindle books and 200 into Smashwords.com eBooks.
Some people have complained that the simple guides are too simple.
For their information they are made simple in order to educate the patients.
The later books go into more details of medical disorders.
The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.
Since 2013, I have tried to improve my spelling and writing.
As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.
Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.
I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.
I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.
I apologize if these repetitions are irritating to some readers.
Chapter 1
Williams syndrome
Williams syndrome is an infrequent disorder that can result in physical and mental development.
It is inherited (passed down in families).
Most people with Williams Syndrome are as friendly, happy and pure as the fairies found in the books of myths and tales.
The word elfin
may have used to describe the facial features of people with Williams syndrome.
People believed that persons with the syndrome, who have extremely charming and kind personalities, had extraordinary, even magical, powers.
They look like the elves with their mischievous upturned noses, pointed chins and flashy smiles.
For these persons with distinct elf-like facial features, the goodness of heart and the vulnerability of trust are symptoms of a genetic disorder (Williams Syndrome) that affects an estimated 1 in 7,500 to 10,000 people.
In spite of their intellectual difficulties, they are