The A-Z Reference Book of Syndromes and Inherited Disorders

Table of Contents

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   Book Overview
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   Chapter 1 The effects of disability
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   Chapter 2 Achondroplasia
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   Chapter 3 Aicardi’s syndrome
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   Chapter 4 Albinism
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   Chapter 5 Albright’s syndrome
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   Chapter 6 Alport’s syndrome
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   Chapter 7 Angelman’s syndrome
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   Chapter 8 Apert’s syndrom
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    Chapter 9 Arthrogryposis
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    Chapter 10 Asperger’s syndrome
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    Chapter 11 Ataxia-telangiectasia
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    Chapter 12 Batten’s disease
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    Chapter 13 Beckwith—Wiedeman syndrome
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    Chapter 14 Charcot—Marie—Tooth disease
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    Chapter 15 CHARGE association
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    Chapter 16 Christmas disease
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    Chapter 17 Cockayne syndrome
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    Chapter 18 Coffin—Lowry syndrome
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    Chapter 19 Cornelia de Lange syndrome
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    Chapter 20 Cri—du—chat syndrome
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    Chapter 21 Crouzon’s syndrome
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    Chapter 22 Cystic fibrosis
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    Chapter 23 Down’s syndrome
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    Chapter 24 Duchenne muscular dystrophy
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    Chapter 25 Edward’s syndrome
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    Chapter 26 Ehlers—Danlos syndrome
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    Chapter 27 Ellis—Van Creveld syndrome
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    Chapter 28 Epidermolysis bullosa
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    Chapter 29 Fabry disease
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    Chapter 30 Foetal alcohol syndrome
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    Chapter 31 Fragile X syndrome
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    Chapter 32 Friedrich’s ataxia
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    Chapter 33 Galactosaemia
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    Chapter 34 Gaucher disease
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    Chapter 35 Gilles de la Tourette syndrome
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    Chapter 36 Goldenhar syndrome
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    Chapter 37 Guillain Barre syndrome
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    Chapter 38 Haemolytic-uraemic syndrome
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    Chapter 39 Haemophilia
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    Chapter 40 Homocystinuria
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    Chapter 41 Hunter’s syndrome
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    Chapter 42 Hurler’s syndrome
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    Chapter 43 Hypertrophic cardiomyopathy
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    Chapter 44 Klinefelter’s syndrome
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    Chapter 45 Klippel-Feil syndrome
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    Chapter 46 Lawrence-Moon-Biedl syndrome
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    Chapter 47 Lennox—Gastaut syndrome
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    Chapter 48 LEOPARD syndrome
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    Chapter 49 Lowe’s syndrome
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    Chapter 50 Marfan’s syndrome
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    Chapter 51 Moebius syndrome
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    Chapter 52 Morquio’s syndrome
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    Chapter 53 Nephrotic syndrome
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    Chapter 54 Neurofibromatosis
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    Chapter 55 Niemann—Pick disease
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    Chapter 56 Noonan’s syndrome
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    Chapter 57 Oilier disease
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    Chapter 58 Osteogenesis imperfecta
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    Chapter 59 Patau Syndrome
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    Chapter 60 Phenylketonuria
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    Chapter 61 Pierre-Robin syndrome
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    Chapter 62 Prader-Willi syndrome
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    Chapter 63 Primary ciliary dyskinaesia
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    Chapter 64 Retinitis pigmentosa
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    Chapter 65 Rett’s syndrome
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    Chapter 66 Reye’s syndrome
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    Chapter 67 Riley—Day syndrome
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    Chapter 68 Rubinstein—Taybi syndrome
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    Chapter 69 San Filippo syndrome
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    Chapter 70 Sickle cell anaemia
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    Chapter 71 Silver—Russell syndrome
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    Chapter 72 Sjorgen—Larsson syndrome
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    Chapter 73 Smith—Lemli—Opitz syndrome
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    Chapter 74 Smith—Magenis syndrome
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    Chapter 75 Soto’s syndrome
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    Chapter 76 Spinal muscular atrophy
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    Chapter 77 Stickler syndrome
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    Chapter 78 Sturge—Weber syndrome
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    Chapter 79 TAR syndrome
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    Chapter 80 Tay—Sachs disease
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    Chapter 81 Thalassaemi
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    Chapter 82 Treacher Collins syndrome
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    Chapter 83 Tuberous sclerosis
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    Chapter 84 Turner’s syndrom
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    Chapter 85 Usher’s syndrome
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    Chapter 86 VATER association
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    Chapter 87 Vitiligo
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    Chapter 88 Waardenburg’s syndrome
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    Chapter 89 West’s syndrome
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    Chapter 90 William’s syndrome
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    Chapter 91 Wolf-Hirschhorn syndrome