The A-Z Reference Book of Syndromes and Inherited Disorders

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.