The A-Z Reference Book of Syndromes and Inherited Disorders

389 Pages·1996·7.03 MB·English

by  Patricia Gilbert (auth.)

he A-Z Reference Book of Syndromes
and Inherited Disorders
The A-Z Reference
Book of Syndromes
and Inherited
Disorders
Patricia Gilbert
Visiting Senior Lecturer, Warwick University, UK
SPRINGER-SCIENCE+BUSINESS MEDIA, B.V.
First edition 1993
Reprinted 1994
Second edition 1996
© 1996 Patricia Gilbert
Originally published by Chapman and Hall in 1996
Phototypeset in 10/12 pt Times by Intype, London
ISBN 978-0-412-64120-6 ISBN 978-1-4899-6918-7 (eBook)
DOI 10.1007/978-1-4899-6918-7
Apart from any fair dealing for the purposes of research or private study.
or criticism or review, as permitted under the UK Copyright
Designs and Patents Act, 1988, this publication may not be reproduced.
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The publisher makes no representation, express or implied, with regard
to the accura<;y Qf the information contained in this book and cannot accept
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be made.
A catalogue record for this book is available from the British Library
Library of Congress Catalog Card Number: 95-7001 ~
i§ Printed on permanent acid-free text paper, manufactured in
accordance with ANSIINISO Z39.4i\-1992 and ANSI/NISO
Z39.4i\-19i\4 (Permanence of Paper).
Contents
Foreword ix
Preface xi
Preface to the first edition xiii
Acknowledgements XV
The effects of disability 1
Syndromes
Achondroplasia 9
Aicardi's syndrome 14
Albinism 18
Albright's syndrome 22
Alport's syndrome 26
Angelman's syndrome 30
Apert's syndrome 33
Arthrogryposis 37
Asperger's syndrome 40
Ataxia-telangiectasia 44
Batten's disease 48
Beckwith-Wiedeman syndrome 52
Charcot- Marie-Tooth disease 56
CHARGE association 59
Christmas disease 63
Cockayne syndrome 67
Coffin-Lowry syndrome 70
Cornelia de Lange syndrome 73
Cri-du--chat syndrome 76
Crouzon's syndrome 80
Cystic fibrosis 84
Down's syndrome 89
Duchenne muscular dystrophy 94
Edward's syndrome 99
vi I I CONTENTS
Ehlers-Danlos syndrome 103
Ellis-Van Creveld syndrome 107
Epidermolysis bullosa 110
Fabry disease 113
Foetal alcohol syndrome 116
Fragile X syndrome 119
Friedrich's ataxia 123
Galactosaemia 127
Gaucher disease 131
Gilles de Ia Tourette syndrome 134
Goldenhar syndrome 137
Guillain Barre syndrome 141
Haemolytic-uraemic syndrome 144
Haemophilia 148
Homocystinuria 152
Hunter's syndrome 155
Hurler's syndrome 159
Hypertrophic Cardio-myopathy 163
Klinefelter's syndrome 168
Klippel-Feil syndrome 172
Lawrence-Moon-Biedl syndrome 175
Lennox-Gastaut syndrome 178
LEOPARD syndrome 182
Lowe's syndrome 185
Marfan's syndrome 188
Moebius syndrome 193
Morquio's syndrome 196
Nephrotic syndrome 200
Neurofibromatosis 205
Niemann-Pick disease 210
Noonan's syndrome 214
Oilier disease 218
Osteogenesis imperfecta 221
Patau's syndrome 225
Phenylketonuria 229
Pierre-Robin syndrome 233
Prader-Willi syndrome 236
Primary ciliary dyskinaesia 240
Retinitis pigmentosa 244
Rett's syndrome 247
Reye's syndrome 251
Riley-Day syndrome 254
Rubinstein-Taybi syndrome 258
San Filippo syndrome 262
I
c_o__N_ T_ E_N_T_s_ ___________________~ l vn
L__ ____________________
Sickle cell anaemia 266
Silver-Russell syndrome 271
Sjorgen-Larsson syndrome 274
Smith-Lemli-Opitz syndrome 277
Smith-Magenis syndrome 280
Soto's syndrome 283
Spinal muscular atrophy 286
Stickler syndrome 290
Sturge-Weber syndrome 294
TAR syndrome 297
Tay-Sachs disease 301
Thalassaemia 304
Treacher Collins syndrome 308
Tuberous sclerosis 312
Turner's syndrome 316
Usher's syndrome 321
VATER association 325
Vitiligo 329
Waardenburg's syndrome 332
West's syndrome 336
William's syndrome 340
Wolf-Hirschhorn syndrome 343
Appendix A Background genetics 347
Appendix B Regional genetics centres 359
Appendix C Glossary 362
Index 367
Foreword
More often than not, my heart sinks when I know I am to see a family
with a child who has a 'syndrome'. It sinks because it is highly likely that
I will not understand the cause of the syndrome, that there will be no
specific treatment, that the outlook (particularly in newly-described
syndromes) may be unknown and most importantly, the parents will ask
me sensible and pertinent questions that I cannot answer. Only if I have
special expertise in the disorder or group of disorders, will I be able to
help the child as I would wish. Clearly I cannot have expertise in, or
knowledge of, even a fraction of the over 2000 syndromes now described.
My difficulties are, I am sure, shared to a greater or lesser extent by all
who may be involved in counselling or caring for those disabled by a
'syndrome'. Many who will be responsible for providing for the child's
needs, and to whom the parents may tum, may not even have any back
ground medical knowledge. This book, written simply and concisely and
in non-technical language, gives just the sort of information needed. It will
be a boon to those working in Child Health in the community, in Social
Services and in schools.
To cover more than a small selection of the known 'syndromes' is clearly
impracticable and to be always up-to-date with the latest 'discovery' in
such a rapidly moving field is impossible. Dr Gilbert, with her extensive
experience, has chosen wisely and much of the practical information that
she gives will not date. Patients, parents and professionals will have reason
to be grateful to her for having compiled this compendium on a difficult
and important topic.
Professor Dame June Lloyd
Preface
Twenty extra syndromes have been added to the text, bringing the total
described to 90. A number of the syndromes added have been specifically
requested by readers of the first edition, to whom I give my thanks. The
same criteria for inclusion have been applied as in the original text.
The glossary has been substantially extended to include a greater
number of perhaps more common medical terms. It is hoped that this will
prove helpful to the wider readership.
Where necessary, in the light of further knowledge, additions have been
made to the text. Changes have also been made where the addresses of
the self-help groups have altered. It is inevitable that this will repeatedly
occur over the years. In cases of difficulty, readers should refer to Contact
a-Family at 170 Tottenham Court Road, London, W1P OHA (Tel. [phone]
3555), who will be able to supply up-to-date information about addresses.
Preface to the first edition
Syndromes are part of everyday diagnosis today. The number described
seems to increase weekly. Until now, few were known or documented
accurately. Just what are these conditions so labelled?
The Oxford English Dictionary defines a 'syndrome' as 'a concurrence
of several symptoms in a disease; a set of such concurrent symptoms'. Put
in simpler terms, a 'syndrome' can be described as a specific collection of
signs and symptoms which when put together form a recognizable pattern
which can be seen to be repeated in another individual.
There are now over 2000 of these syndromes recorded. Some are incred
ibly rare, others uncommon, whilst others are relatively frequently seen in
comparison. For example, in the latter group is Down's syndrome - well
known to most people - with a general incidence of one in approximately
every 800 births. Examples of the rarer syndromes are Hunter's and Hur
ler's syndromes. Both of these syndromes are only found in one child in
100 000. Few doctors, nurses, teachers or social workers (unless their work
happens to be with disabled children or adults) will have seen more
than a handful of such syndromes. Nevertheless, with the ever-increasing
number of syndromes being classified, many of these professionals could
well be seeing several people with a specific syndrome during their working
lives.
At some time during the lives of people who have a definable syndrome,
and most commonly in childhood, help in some form, be it medical,
nursing, social or educational, will be needed. In the early days parents
will need support, advice and counselling in order to come to terms with
their child's disability, as well as the more practical aspects of care. Later
in the child's life, social workers and educationalists become involved. All
these professionals need accurate knowledge of each specific syndrome if
they are to be fully effective in their support of families.
In this book, a small number of the known syndromes are described in
alphabetical order. Each section gives guidelines on the practical aspects
of help that can be given. Any one of the disciplines of medicine, nursing,