he A-Z Reference Book of Syndromes and Inherited Disorders

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1 he A-Z Reference Book of Syndromes and Inherited Disorders

2 The A-Z Reference Book of Syndromes and Inherited Disorders Patricia Gilbert Visiting Senior Lecturer, Warwick University, UK SPRINGER-SCIENCE+BUSINESS MEDIA, B.V.

3 First edition 1993 Reprinted 1994 Second edition Patricia Gilbert Originally published by Chapman and Hall in 1996 Phototypeset in 10/12 pt Times by Intype, London ISBN ISBN (ebook) DOI / 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. stored, or transmitted, in any form or by any means, without the prior permission in writing of the publishers, or in the case of reprographic reproduction only in accordance with the terms of the licences issued by the Copyright Licensing Agency in the UK. or in accordance with the terms of licences issued by the appropriate Reproduction Rights Organization outside the UK. Enquiries concerning reproduction outside the terms stated here should be sent to the publishers at the London address printed on this page. The publisher makes no representation, express or implied, with regard to the accura<;y Qf the information contained in this book and cannot accept any legal responsibility br liability for any errors or omissions that mav be made. A catalogue record for this book is available from the British Library Library of Congress Catalog Card Number: ~ 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).

4 Contents Foreword Preface Preface to the first edition Acknowledgements The effects of disability 1 ix xi xiii 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 XV

5 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

6 L c_o_n T_E_N_T_s ~l I vn Sickle cell anaemia Silver-Russell syndrome Sjorgen-Larsson syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Soto's syndrome Spinal muscular atrophy Stickler syndrome Sturge-Weber syndrome TAR syndrome Tay-Sachs disease Thalassaemia Treacher Collins syndrome Tuberous sclerosis Turner's syndrome Usher's syndrome VATER association Vitiligo Waardenburg's syndrome West's syndrome William's syndrome Wolf-Hirschhorn syndrome Appendix A Background genetics Appendix B Regional genetics centres Appendix C Glossary Index

7 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 background 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

8 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 Contacta-Family at 170 Tottenham Court Road, London, W1P OHA (Tel ), who will be able to supply up-to-date information about addresses.

9 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 incredibly rare, others uncommon, whilst others are relatively frequently seen in comparison. For example, in the latter group is Down's syndrome - wellknown to most people - with a general incidence of one in approximately every 800 births. Examples of the rarer syndromes are Hunter's and Hurler's syndromes. Both of these syndromes are only found in one child in 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,

10 xiv I._I P_R_E_F_'A_C_E_T_O_T_H_E_FI_R_S_T_E_D_IT_I_O_N J social work or education may be involved, but in many cases all four disciplines will have a part to play. Many of the syndromes have self-help groups which have been set up over the years, most frequently by parents who themselves have a child with the specific disorder. Contact points for these self-help groups are to be found at the end of each appropriate section. A basic outline of genetics is given in Appendix A. The effects of a disabling condition on the individual, the family and society in general are also discussed separately. Comprehensive cross-indexing is included to help the reader towards the correct syndrome. For instance, all syndromes having short stature as a characteristic are listed together, as are those syndromes in which a squint might be a factor. It is hoped that this book will prove to be of value to all professionals who are concerned with the care of disabled children. It has been difficult to limit the syndromes described to a manageable number. The main criteria involved in this choice were two-fold. First, that the syndrome will result in long-term and in many cases life-long problems of one kind or another, either mental or physical. Second, that help is available which can alleviate some of the problems and improve the quality of life. The author will be pleased to receive comments and suggestions as to possible further inclusions for future editions. Finally, my thanks are due to all the many children with a 'syndrome', and their parents, with whom I have had the privilege to work over the years.

11 Acknowledgements My thanks are due to a number of people who have given encouragement and help with the writing of this book. In particular, Dr Terry Billington has given unstintingly of her time and expertise in reading the manuscript. Without her medical and physiotherapy skills much would have been lost. Dr Peter Farndon has also found time in his exceedingly busy life to give advice on genetics for Appendix A, and for this I am in his debt. It must be emphasized that any errors in the text are entirely my own. Much gratitude is also due to Professor Dame June Lloyd for writing the Foreword to the first edition, and I would like to thank her again for her kind words and sentiments. Rosemary Morris, Senior Editor at Chapman & Hall, has been unstinting in her enthusiasm and encouragement. Without her ready availability and professional expertise, my task would have been more difficult. Finally, my thanks again to my husband who has continued to guide me successfully through the minefields of word-processing with patience and cheerfulness.

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