The A-Z Reference Book of Syndromes and Inherited Disorders

The incidence of handicap from syndromes and inherited disorders is world-wide and causes common problems for families and society. This edition has been extended to include 20 extra syndromes and additional material to aid the reader in contacting self-help groups. It provides a practical reference for carers and those with a syndrome or inherited disorder, describing the disorders and problems of both child and adult, considers the day-to-day management of conditions and is written in non-technical language for a wider audience but with enough detail for the medical, nursing and midwifery professions. Whilst new methods of diagnosis, investigation and treatment will, of course, occur over the next few years, the basics described in this book will still apply. As a basis for assessing needs and potential in their students and clients, social workers, nursery nurses and educationalists should find this reference source of value. This book should be of interest to paediatric and nursery nurses, social workers, teachers and child carers.

Table of Contents:
Syndromes: Achondroplasia; Aicardi's syndrome; albinism; Albright's syndrome; Alport's syndrome; Angelman's syndrome; Apert's syndrome; arthrogryposis; Aperger's syndrome; ataxia-telangiectasia; Batten's disease; Beckwith-Wiedman syndrome; Charcot-Marie-Tooth disease; CHARGE association; Christmas disease; cockayne syndrome; Coffin-Lowry syndrome; Cornelia de Lange syndrome; Cri-du-Chat syndrome; Crouzon's syndrome; cystic fibrosis; Down's syndrome; Duchenne muscular dystrophy; Edward's syndrome; ehlers-Danlos syndrome; Ellis-van Creveld syndrome; Epidermoysis bullosa; Fabry disease; foetal alcohol syndrome; fragile X syndrome; Friedrich's ataxia; Galactosaemia; Gaucher disease; Gilles de la Tourette syndrome; Goldenhar syndrome; Guillain Barre syndrome; haemolytic-uraemic syndrome; haemophilia; homocystinuria; Hunter's syndrome; Hurler's syndrome; hypertrophic cardio-myopathy; Klinefelter's syndrome; Klippel-Feil syndrome; Lawrence-Moon-Biedl syndrome; Lennox-Gastaut syndrome; LEOPARD syndrome; Lowe's syndrome; Marfan's syndrome; moebius syndrome; Morquio's syndrome; nephrotic syndrome; neurofibromatosis; Niemann-Pick disease; Noonan's syndrome; Ollier disease; osteogenesis imperfecta; Patau's syndrome; phenylketonuria; Pierre-robin syndrome; Prader-Willi syndrome; primary ciliary dyskinaesia; retinitis pigmentosa; Rett's syndrome; Reye's syndrome; Riley-Day syndrome; Rubinstein-Taybi syndrome; San Filippo syndrome; 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. Appendices: background genetics; regional genetics centres.