NORD Guide to Rare Disorders

Front Cover
National Organization for Rare Disorders
Lippincott Williams & Wilkins, 2003 - Medical - 895 pages
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NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
 

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A guide to rare disorders that is missing rare disorders . . . hmmm
Someone dropped the ball somewhere on that note. I'll say it is out of date since the 'missing rare disorders' have info available on their website at today's date in 2009

Contents

50
2
34
3
51
12
Chromosome 22q11 Deletion Spectrum 26 HayWells Syndrome
16
Chromosome 22 Ring 27 Hemangioma Cavernous
17
Chromosome 22 Trisomy Mosaic 28 Hidradenitis Suppurativa
18
Chromosome 3 Monosomy 3p2 29 Hypomelanosis of
19
Chromosome 3 Trisomy 342 30 Ichthyosis
20
YunisVarón Syndrome 28 Rickets XLinked Hypophosphatemic
150
59
153
Erythrokeratodermia Variabilis Blue Rubber Bleb Nevus Syndrome 22 Erythromelalgia BowenConradi Syndrome 23 FoxFordyce Disease Branchio...
161
62
167
42
178
Dysplasia Craniofrontonasal
183
48
184
64
189

Chromosome 4 Monosomy 4q 31 Incontinentia Pigmenti
21
Chromosome 4 Monosomy Distal 4q 32 Keratitis Ichthyosis Deafness Syndrome
22
Chromosome 4 Partial Trisomy Distal 4q 33 Leiner Disease
23
Chromosome 4 Ring 34 LEOPARD Syndrome
24
Chromosome 4 Trisomy 4p 35 Lichen Planus
25
Chromosome 5 Trisomy 5p 36 Lichen Sclerosis
26
Chromosome 6 Partial Trisomy 6q 37 McGrath Syndrome
27
Chromosome 6 Ring 38 Meleda Disease
28
Chromosome 7 Monosomy 7p2 39 MuchaHabermann Disease
29
Chromosome 8 Monosomy 8p2 40 Pachydermoperiostosis
30
Chromosome 9 Partial Monosomy 9p 41 Pemphigoid Bullous
31
Chromosome 9 Ring 42 Pemphigoid Cicatricial
32
Chromosome 9 Tetrasomy 9p 43 Pemphigus Vulgaris and Pemphigus Foliaceus
33
Chromosome 9 Trisomy 9p Multiple Variants 44 Pityriasis Rubra Pilaris
34
Chromosome 9 Trisomy Mosaic 45 Pseudoxanthoma Elasticum
35
Pentasomy X 46 Pyoderma Gangrenosum
36
Trisomy 13 Syndrome 47 RothmundThomson Syndrome
37
Trisomy 18 Syndrome 48 Scleromyxedema
38
Syndrome Triple X Syndrome 49 Setleis Syndrome
39
XXY Syndrome Klinefelter Syndrome 50 Sutton Disease
40
XYY Syndrome 51 Sweet Syndrome
41
Toxic Epidermal Necrolysis
52
19
73
36
86
DERMATOLOGIC DISORDERS
93
DYSMORPHIC DISORDERS 141
98
58
129
SturgeWeber Syndrome 10 Asherman Syndrome
132
3M Syndrome 11 Bartter Syndrome
133
Thrombocytopenia and Absent Radius Syndrome 12 Carcinoid Syndrome
134
Tooth Agenesis Anodontia 13 Cushing Syndrome
135
TownesBrocks Syndrome 14 Diabetes Insipidus
136
TreacherCollins Syndrome 15 Growth Hormone Deficiency
137
Triploidy SyndromePartial Molar Pregnancy 16 HAIRAN Syndrome
138
Turner Syndrome 17 Hermaphroditism True
139
Von HippelLindau Disease 18 Hypophosphatasia
140
Weaver Syndrome 19 Kallmann Syndrome
141
WeillMarchesani Syndrome 20 Laron Dwarfism
142
WeismannNetterStuhl Syndrome 21 Lipodystrophy Acquired Generalized
143
Werner Syndrome 22 Lipodystrophy Acquired Partial
144
Williams Syndrome 23 Lipodystrophy Congenital Generalized
145
Winchester Syndrome 24 Lipodystrophy Familial Partial
146
WolfHirschhorn Syndrome 25 Polycystic Ovary Syndrome
147
Wolfram Syndrome 26 Precocious Puberty
148
XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism
149
62
196
65
198
69
202
72
204
76
208
78
210
80
212
85
216
92
222
95
225
110
238
125
251
Sheehan Syndrome
328
EMERGINGINFECTIOUS 30 Thyroiditis Chronic Lymphocytic DISEASES 277 31 ZollingerEllison Syndrome
330
11
368
Lynch Syndromes
401
16
430
Homocystinuria
459
Deficiency
471
Phosphoglycerate Kinase Deficiency
489
1
508
ArnoldChiari Syndrome
515
Tuberous Sclerosis
595
23
602
Muscular Dystrophy Becker
621
Neuromyotonia
635
20
659
Usher Syndrome
664
10
680
16
693
Polycystic Kidney Disease AutosomalRecessive
699
9
708
27
726
List of Resource Groups
735
List of Orphan Products
769
Index
817
Anthrax
820
GASTROENTEROLOGIC 3 Brucellosis DISORDERS 3 31
824
Encephalitides Selected 4 Byler Disease 8 Erysipelas 5 Caroli Disease
827
Hantavirus Pulmonary Syndrome 7 CronkhiteCanada Syndrome 11 Hepatitis Idiopathic Neonatal 8 Diverticulosis Small Bowel 12 Leptospirosis 9 Du...
829
Listeriosis 10 Gastritis Giant Hypertrophic 14 Malaria 11 Gastroenteritis Eosinophilic
845
Plague 12 GlucoseGalactose Malabsorption
846
ENDOCRINE DISORDERS 299 18 Jejunal Atresia 1 AchardThiers Syndrome 19 Mesenteric Panniculitis 2 Acromegaly 20 Microvillus Inclusion Dis...
855
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