NORD guide to rare disorders /
National Organization for Rare Disorders.
Philadelphia : Lippincott Williams & Wilkins, c2003.
lxiv, 895 p., [16] p. of plates : ill. (some col.) ; 29 cm.
More Details
Philadelphia : Lippincott Williams & Wilkins, c2003.
catalogue key
Includes bibliographical references and index.
A Look Inside
Review Quotes
A review of this edition: Research of rare disorders has gained in importance in the past few years, since our understanding of genetics has led to a growing awareness that studying rare diseases often contributes to our knowledge of more common ones. Researchers and clinicians who study and treat rare diseases frequently share information, and these exchanges are often facilitated by patients' organisations. In the USA, this year marks the 20th anniversary of the Orphan Drug Act, legislation that has had a tremendous impact on the development of new therapies for rare disorders. In the decade before this act was adopted, only ten new treatments were brought to market in the USA for rare disorders. In the 20 years since the act, more than 1000 new treatments have been introduced to the research pipeline, and well over 200 have been approved for marketing. Similar legislation has been adopted in Europe and Japan. It is appropriate that The NORD Guide to Rare Disorders should have been released during this 20th anniversary year. NORD (the National Organisation for Rare Disorders in the USA; see also was established in 1983 by a coalition of leaders from patients' support groups, medical researchers, and clinicians who had come together to mobilise support for the Orphan Drug Act. The book reads like an international Who's Who in rare diseases. NORD has recruited more than 600 physicians and medical researchers to write entries on some 800 diseases. In each case, the editorial team has solicited contributions from international experts--for example, John Menkes writes about Menkes disease, John McGrath reviews McGrath syndrome, and Kurt Hirschhorn discusses Wolf-Hirschhorn syndrome. Despite its emphasis on rare disorders, the book covers many diseases that the general practitioner should be prepared to encounter. In the USA, a "rare" disease is one known to affect fewer than 200 000 people. As a result, this book reviews a broad spectrum of diseases--from those that affect fewer than 100 people to diseases that affect some 200 000 people. Some diseases are also included that are not considered rare from a global perspective. According to the book's introduction, the topics selected were ones judged not to have been covered thoroughly in existing texts and disorders that tend to be misdiagnosed, even though they may have been covered well previously. Generalists, including family physicians, paediatricians, and specialists in internal medicine, are the main audience for this guide. The book will also be useful for those who work at national and local health institutions or departments that provide access to health care. One of the aims of the guide is to encourage earlier diagnosis for patients, who can go for several years without a proper diagnosis because their disease is rare. The entries are short and readable, each begins with a brief, general discussion that is followed by sections on differential diagnosis, aetiology, presenting signs and symptoms, and standard therapies. Investigational therapies, when they exist, are briefly noted. The section of the synonyms is important and useful to identify the diseases; it is common for the same disease to be officially reported with a different name creating misunderstanding. Since most of the diseases are genetic, it would have been useful to have more information on genetic risk and tools of prevention if they exist. Each entry is footnoted with details of patients' organisations and other sources of assistance for patients and their families. Contact information and websites are provided for these organisations. There is also a list of about 1000 products that have been designated orphan drugs in the USA with sponsoring companies. Although many of the book's contributors are from American universities and government offices (most notably the National Institutes of Health and Centers for Disease Control and Prevention),
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Main Description
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.
Table of Contents
Dedicationp. v
Forewordp. vii
Prefacep. ix
Acknowledgmentsp. xi
Reviewersp. xiii
Contributorsp. xv
Autoimmune & Connective Tissue Disordersp. 1
Antiphospholipid Syndrome
Arachnodactyly, Congenital Contractural
Behcet Disease
Cryoglobulinemia, Mixed
DeBarsy Syndrome
Eosinophilia-Myalgia Syndrome
Eosinophilic Fasciitis
Felty Syndrome
Diffuse Idiopathic Skeletal Hyperostosis (Forestier Disease)
Graft-Versus-Host Disease
Hajdu-Cheney Syndrome
Hyper-IgE Syndrome
Immunodeficiency, Common Variable
Immunodeficiency, Severe Combined
Kawasaki Disease
Legg-Calve-Perthes Disease
Lymphoepithelial Lesion, Benign (Mikulicz Syndrome)
Marden-Walker Syndrome
Mediterranean Fever, Familial
Metatrophic Dysplasia
Navicular Osteochondritis (Kohler Disease)
Neutropenia, Cyclic
Neutropenia, Severe Chronic
Ollier Disease
Paget Disease of Bone
Peyronie Disease
POEMS Syndrome
Polyangiitis, Microscopic
Polyarteritis Nodosa
Polychondritis, Relapsing
Premature Ovarian Failure, Autoimmune
Reye Syndrome
Sjogren Syndrome and Cutaneous Vasculitis
Takayasu Arteritis
Thromboangiitis Obliterans
Vogt-Koyanagi-Harada Syndrome
Waldenstrom Macroglobulinemia
Wiskott-Aldrich Syndrome
Cardiovascular Disordersp. 41
Atrial Septal Defects
Atrioventricular Septal Defects
Barth Syndrome
Brugada Syndrome
Cor Triatriatum
Eisenmenger Syndrome
Endomyocardial Fibrosis
Granulomatosis, Lymphomatoid
Heart Block, Congenital Complete
Hypoplastic Left Heart Syndrome
Jervell and Lange-Nielsen Syndrome
Myocarditis, Giant Cell
Myocarditis, Hypersensitivity
Romano-Ward Long QT Syndrome
Situs Inversus
Truncus Arteriosus, Persistent
Chromosomal Disordersp. 57
Chromosome 1, Deletion of the Short Arm of
Chromosome 10, Distal Trisomy 10q
Chromosome 10, Monosomy 10p
Chromosome 11, Partial Monosomy 11q
Chromosome 11, Partial Trisomy 11q
Chromosome 13, Partial Monosomy 13q
Chromosome 14 Ring
Chromosome 14, Trisomy Mosaic
Chromosome 15, Distal Trisomy 15q
Chromosome 15 Ring
Chromosome 18, Monosomy 18p
Chromosome 18q- Syndrome
Chromosome 18 Ring
Chromosome 18, Tetrasomy 18p
Chromosome 21 Ring
Chromosome 22q11 Deletion Spectrum
Chromosome 22 Ring
Chromosome 22, Trisomy Mosaic
Chromosome 3, Monosomy 3p2
Chromosome 3, Trisomy 3q2
Chromosome 4, Monosomy 4q
Chromosome 4, Monosomy Distal 4q
Chromosome 4, Partial Trisomy Distal 4q
Chromosome 4 Ring
Chromosome 4, Trisomy 4p
Chromosome 5, Trisomy 5p
Chromosome 6, Partial Trisomy 6q
Chromosome 6 Ring
Chromosome 7, Monosomy 7p2
Chromosome 8, Monosomy 8p2
Chromosome 9, Partial Monosomy 9p
Chromosome 9 Ring
Chromosome 9, Tetrasomy 9p
Chromosome 9, Trisomy 9p (Multiple Variants)
Chromosome 9, Trisomy Mosaic
Pentasomy X
Trisomy 13 Syndrome
Trisomy 18 Syndrome
XXX Syndrome (Triple X Syndrome)
XXY Syndrome (Klinefelter Syndrome)
XYY Syndrome
Dermatologic Disordersp. 93
Acrodermatitis Enteropathica
Alopecia Areata
Aplasia Cutis Congenita
Bjornstad Syndrome
Bowen Disease
Bowenoid Papulosis
Cellulitis, Familial Eosinophilic (Wells Syndrome)
Cutis Marmorata Telangiectatica Congenita
Darier Disease
Degos Disease
Dermatitis Herpetiformis
Dermatosis, Transient Acantholytic
Dyskeratosis Congenita
Epidermal Nevus Syndrome
Epidermolysis Bullosa, Dystrophic
Epidermolysis Bullosa, Junctional
Epidermolysis Bullosa Simplex
Epidermolytic Hyperkeratosis
Erythema Multiforme
Erythrokeratodermia, Progressive Symmetric/Erythrokeratodermia with Ataxia
Erythrokeratodermia Variabilis
Fox-Fordyce Disease
Gianotti-Crosti Syndrome
Granuloma Annulare
Hay-Wells Syndrome
Hemangioma, Cavernous
Hidradenitis Suppurativa
Hypomelanosis of Ito
Incontinentia Pigmenti
Keratitis Ichthyosis Deafness Syndrome
Leiner Disease
LEOPARD Syndrome
Lichen Planus
Lichen Sclerosis
McGrath Syndrome
Meleda Disease
Mucha-Habermann Disease
Pemphigoid, Bullous
Pemphigoid, Cicatricial
Pemphigus Vulgaris and Pemphigus Foliaceus
Pityriasis Rubra Pilaris
Pseudoxanthoma Elasticum
Pyoderma Gangrenosum
Rothmund-Thomson Syndrome
Setleis Syndrome
Sutton Disease
Sweet Syndrome
Toxic Epidermal Necrolysis
Dysmorphic Disordersp. 141
Aarskog Syndrome
Aase Syndrome
Acrocallosal Syndrome (Schinzel Type)
Acrogeria (Gottron Type)
Adams-Oliver Syndrome
Allan-Herndon-Dudley Syndrome
Amelogenesis Imperfecta
Amniotic Bands
Angelman Syndrome
Anorectal Malformations
Apert Syndrome
Arthrogryposis Multiplex Congenita
Asphyxiating Thoracic Dystrophy
Atelosteogenesis Type III
Baller-Gerold Syndrome
Bardet-Biedl Syndrome
Bloom Syndrome
Blue Rubber Bleb Nevus Syndrome
Bowen-Conradi Syndrome
Branchio-Oculo-Facial Syndrome
C Syndrome
Cardiofaciocutaneous Syndrome
Cat Eye Syndrome
Catel-Manzke Syndrome
Caudal Regression Syndrome
Cerebrocostomandibular Syndrome
CHARGE Syndrome
Chondrocalcinosis, Familial Articular
Cockayne Syndrome
Coffin-Lowry Syndrome
Cohen Syndrome
Conradi-Hunermann Syndrome
Craniosynostosis, Primary
Cri-du-Chat Syndrome
Cystic Hygroma
Dentin Dysplasia
Dentinogenesis Imperfecta Type III
DiGeorge Syndrome
Dubowitz Syndrome
Dyggve-Melchior-Clausen Syndrome
Dysplasia, Cleidocranial
Dysplasia, Craniofrontonasal
Dysplasia, Craniometaphyseal
Dysplasia, Ectodermal
Dysplasia Epiphysealis Hemimelica
Dysplasia, Maxillonasal (Binder Type Syndrome)
Dysplasia, Multiple Epiphyseal Type 1 (Fairbank Syndrome)
Dysplasia, Septooptic
Ear-Patella-Short Stature Syndrome
Esophageal Atresia
Exostoses, Multiple Hereditary
Fetal Hydantoin Syndrome
Fetal Valproate Syndrome
FG Syndrome
Filippi Syndrome
Floating Harbor Syndrome
Fountain Syndrome
Fraser Syndrome
GBBB Syndrome (Opitz Syndrome)
Gordon Syndrome
Gorlin-Chaudhry-Moss Syndrome
Greig Cephalopolysyndactyly Syndrome
Hallerman-Streiff Syndrome
Hanhart Syndrome
Heteroplasia, Progressive Osseous
Hyperostosis Corticalis Generalisata (van Buchem Disease)
Ivemark Syndrome
Jansen Metaphyseal Chondrodysplasia
Jarcho-Levin Syndrome
Johanson-Blizzard Syndrome
Kabuki Make-Up Syndrome
KBG Syndrome
Kenny-Caffey Syndrome
Klippel-Trenaunay Syndrome
Kniest Dysplasia: A Type II Collagenopathy
Laband Syndrome
Laurence-Moon Syndrome
Leri Pleonosteosis (Moore-Federman Syndrome)
Maffucci Syndrome
Marfan Syndrome
Marshall-Smith Syndrome
MASA Syndrome
Meckel Syndrome
Melnick-Needles Syndrome
Miller Syndrome
Mobius Syndrome
Myhre Syndrome
Nager Syndrome
Oculocerebral Syndrome with Hypopigmentation
Osteogenesis Imperfecta
Osteopetrosis, Autosomal-Recessive
Oto-Palato-Digital Syndrome
Pallister-Hall Syndrome
Pallister-Killian Syndrome
Parkes-Weber Syndrome
Parry-Romberg Syndrome
Pentalogy of Cantrell
Pfeiffer Syndrome Type I
Pierre Robin Sequence
Poland Syndrome
Prader-Willi Syndrome
Progeroid Syndrome, Neonatal
Proteus Syndrome
PTEN Hamartoma Tumor Syndrome
Pterygium Syndrome, Multiple
Pterygium Syndrome, Popliteal
Rieger Syndrome
Roberts Pseudothalidomide Syndrome
Russell-Silver Syndrome
Schinzel Syndrome
Schinzel-Giedion Syndrome
Schmid Metaphyseal Chondrodysplasia
Scott Craniodigital Syndrome
SHORT Syndrome
Simpson Dysmorphia Syndrome
Singleton-Merten Syndrome
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Split Hand/Split Foot Malformation
Sprengel Deformity
Sturge-Weber Syndrome
3-M Syndrome
Thrombocytopenia and Absent Radius Syndrome
Tooth Agenesis (Anodontia)
Townes-Brocks Syndrome
Treacher-Collins Syndrome
Triploidy Syndrome-Partial Molar Pregnancy
Turner Syndrome
Von Hippel-Lindau Disease
Weaver Syndrome
Weill-Marchesani Syndrome
Weismann-Netter-Stuhl Syndrome
Werner Syndrome
Williams Syndrome
Winchester Syndrome
Wolf-Hirschhorn Syndrome
Wolfram Syndrome
XLMR-Hypotonic Facies Syndrome
Yunis-Varon Syndrome
Emerging/Infectious Diseasesp. 277
Dengue Fever
Ebola and Other Viral Hemorrhagic Fevers
Encephalitides, Selected
Fascioliasis (Liver Fluke Disease)
Hantavirus Pulmonary Syndrome
Hepatitis, Idiopathic Neonatal
Q Fever
Rift Valley Fever
TORCH Syndrome
West Nile Fever
Whipple Disease
Endocrine Disordersp. 299
Achard-Thiers Syndrome
ACTH Deficiency
Adiposis Dolorosa
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
Aldosteronism, Primary
Alstrom Syndrome
Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome, Partial
Asherman Syndrome
Bartter Syndrome
Carcinoid Syndrome
Cushing Syndrome
Diabetes Insipidus
Growth Hormone Deficiency
HAIR-AN Syndrome
Hermaphroditism, True
Kallmann Syndrome
Laron Dwarfism
Lipodystrophy, Acquired Generalized
Lipodystrophy, Acquired Partial
Lipodystrophy, Congenital Generalized
Lipodystrophy, Familial Partial
Polycystic Ovary Syndrome
Precocious Puberty
Rickets, X-Linked Hypophosphatemic
Sheehan Syndrome
Thyroiditis, Chronic Lymphocytic
Zollinger-Ellison Syndrome
Gastroenterologic Disordersp. 331
Alagille Syndrome
Barrett Esophagus
Biliary Atresia
Byler Disease
Caroli Disease
Crigler-Najjar Syndrome
Cronkhite-Canada Syndrome
Diverticulosis, Small Bowel
Dubin-Johnson Syndrome
Gastritis, Giant Hypertrophic
Gastroenteritis, Eosinophilic
Glucose-Galactose Malabsorption
Hepatorenal Syndrome
Hirschsprung Disease
Intestinal Lymphangiectasia
Intestinal Pseudoobstruction in Adults
Intestinal Pseudoobstruction (Pediatric Presentation)
Jejunal Atresia
Mesenteric Panniculitis
Microvillus Inclusion Disease
Peutz-Jeghers Syndrome
Polyposis, Familial Adenomatous
Ruvalcaba-Myhre-Smith Syndrome
Sucrase-Isomaltase Deficiency
Hematologic/Oncologic Disordersp. 357
Adenoid Cystic Carcinoma
Afibrinogenemia, Congenital
Aggamaglobulinemia, X-Linked
Agranulocytosis, Acquired
Anemia, Aplastic, Acquired
Anemia, Diamond-Blackfan
Anemia, Fanconi
Anemias, Hemolytic, Autoimmune
Anemia, Hemolytic, Cold Syndromes
Anemia, Hemolytic, Nonspherocytic Congenital
Anemia, Hemolytic, Spherocytic, Hereditary (Hereditary Spherocytosis)
Anemia, Hemolytic, Warm Antibody
Anemia, Sickle Cell
Anemia, X-Linked Sideroblastic
Anemia, X-Linked Sideroblastic, and Cerebellar Ataxia
Angioedema, Hereditary
Antithrombin III Deficiency, Congenital
Banti Syndrome
Bernard-Soulier Syndrome
Chediak-Higashi Syndrome
Chylomicron Retention Disease
Ewing Sarcoma of Bone
Factor IX Deficiency
Factor XII Deficiency
Glanzmann Thrombasthenia
Glioblastoma Multiforme
Glucose-6-Phosphate Dehydrogenase Deficiency
Granulomatous Disease, Chronic
Hemochromatosis, Hereditary
Hemoglobinuria, Paroxysmal Cold
Hemoglobinuria, Paroxysmal Nocturnal
Hemophilias, The
Hermansky-Pudlak Syndrome
Histiocytosis, Langerhans Cell
Hyper-IgM Syndrome
Leukemia, Large Granular Lymphocyte
Lymphedema, Hereditary
Lymphohistiocytosis, Hemophagocytic
Lymphoma, Angioimmunoblastic Lymphadenopathy-Type T-cell
Lymphoma, Mantle Cell
Lymphoproliferative Syndrome, X-Linked
Lynch Syndromes
May-Hegglin Anomaly
Mycosis Fungoides
Myeloma, Multiple
Nezelof Syndrome
Pancreas, Islet Cell Tumors of the
Polycythemia Vera
Pseudomyxoma Peritonei
Pure Red Cell Aplasia, Acquired
Purpura, Henoch-Schonlein
Purpura, Idiopathic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic, and Hemolytic Uremic Syndrome of Adults
Shwachman-Diamond Syndrome
Telangiectasia, Hereditary Hemorrhagic
Thalassemia Major
Thalassemia Minor
Thrombocytosis, Idiopathic
Twin-Twin Transfusion Syndrome
Wegener Granulomatosis
Inborn Errors of Metabolismp. 425
Acidemia, Glutaric Type I
Acidemia, Glutaric Type II
Acidemia, Isovaleric
Acidemia, Propionic
Acidemias, The Methylmalonic
Adrenoleukodystrophy, X-Linked
Carnitine Deficiency Syndromes
Carnitine Palmitoyl Transferase I Deficiency
Carnitine Palmitoyl Transferase II Deficiency
Cytochrome Oxidase Deficiency, Human
Dehydrogenase Deficiency, Long-Chain Acyl-CoA
Dehydrogenase Deficiency, Medium-Chain Acyl-CoA
Dehydrogenase Deficiency, Short-Chain Acyl-CoA
Dehydrogenase Deficiency, Very-Long-Chain Acyl-CoA
Dysbetalipoproteinemia, Familial
Erdheim-Chester Disease
Fabry Disease
Farber Disease
Fructose Intolerance, Hereditary
Gaucher Disease
Glut 1 Deficiency Syndrome
Glutathione Synthetase Deficiency
Glycogen Storage Disease, Type 0
Glycogen Storage Disease, Type I
Glycogen Storage Disease, Type II
Glycogen Storage Disease, Type III
Glycogen Storage Disease, Type IV
Glycogen Storage Disease, Type V
Glycogen Storage Disease, Types VI and IX
Glycogen Storage Disease, Type VII
Glycosylation, Congenital Disorders of
Hartnup Disease
Hyperlipidemia, Type IV
Hyperoxalurias, Primary
Lactic Acidoses, Congenital
Lesch-Nyhan Syndrome
Lipoprotein Lipase Deficiency, Familial
Lowe Syndrome
Maple Syrup Urine Disease
Menkes Disease
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Mucolipidosis II and III
Mucolipidosis IV
Mucopolysaccharide Storage (MPS) Diseases
MPS-IH (Hurler Disease)
MPS-IS (Scheie Disease)
MPS-II (Hunter Disease)
MPS-III (Sanfilippo Disease)
MPS-IV (Morquio Disease)
MPS-VI (Maroteaux-Lamy Disease)
MPS-VII (Sly Disease)
Multiple Carboxylase Deficiency (Biotinidase Deficiency)
Multiple Carboxylase Deficiency (Holocarboxylase Synthetase Deficiency)
Multiple Sulfatase Deficiency
Niemann-Pick Disease, Type C
PEPCK Deficiency
Peroxisomal Biogenesis Disorders
Phenylketonuria, Maternal
Phosphoglycerate Kinase Deficiency
Porphyria, Acute Intermittent
Porphyria, ALA-Dehydratase-Deficient
Porphyria, Congenital Erythropoietic
Porphyria Cutanea Tarda
Porphyria, Variegate and Hereditary Coproporphyria
Protoporphyria, Erythropoietic
Pyruvate Kinase Deficiency
Sandhoff Disease
Succinic Semialdehyde Dehydrogenase Deficiency
Tangier Disease
Tay-Sachs Disease
Tetrahydrobiopterin Deficiency
Tyrosinemia Type 1
Urea Cycle Disorders
Wilson Disease
Neurologic Disordersp. 507
Agenesis of Corpus Callosum
Agnosia, Primary Visual
Aicardi Syndrome
Alexander Disease
Alpers Disease
Alternating Hemiplegia of Childhood
Amyotrophic Lateral Sclerosis
Arnold-Chiari Syndrome
Batten Disease
Beckwith-Wiedemann Syndrome
Binswanger Disease
Brown-Sequard Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome
Charcot-Marie-Tooth Polyneuropathy Syndrome
Chorea, Sydenham
Complex Regional Pain Syndrome Type 1
Corticobasal Degeneration
Cyclic Vomiting Syndrome
Dandy-Walker Syndrome
Dejerine-Sottas Syndrome
Diencephalic Syndrome
Dysautonomia, Familial
Empty Sella Syndrome, Primary
Epilepsy, Progressive Myoclonus
Fahr Disease
Frey Syndrome
Frontotemporal Dementia (Pick Disease)
Gerstmann Syndrome
Guillain-Barre Syndrome
Huntington Disease
Infantile Spasms
Joubert Syndrome
Kleine-Levin Syndrome
Kluver-Bucy Syndrome
Korsakoff Syndrome
Kuf Disease
Landau-Kleffner Syndrome
Lateral Sclerosis, Primary
Lennox-Gastaut Syndrome
Leukodystrophy (Canavan Disease)
Leukodystrophy (Krabbe Disease)
Leukodystrophy, Metachromatic
Lissencephaly, Classic
Locked-in Syndrome
Machado-Joseph Disease
Megalocornea and Mental Retardation
Melkersson-Rosenthal Syndrome
Meniere Disease
Moyamoya Syndrome
Multiple Sclerosis, Rare Variants of
Multiple System Atrophy
Neu-Laxova Syndrome
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Neuroleptic Malignant Syndrome
Neuromyelitis Optica
Neuropathy, Congenital Hypomyelination
Neuropathy, Giant Axonal
Neuropathy, Hereditary Sensory, Type I
Neuropathy, Hereditary Sensory, Type II
Obstetric Brachial Plexus Palsy
Opsoclonus-Myoclonus Syndrome
Palsy, Progressive Supranuclear
Panencephalitis, Subacute Sclerosing
Paraplegia, Hereditary Spastic
Parkinson Disease
Parsonage-Turner Syndrome
Pelizaeus-Merzbacher Disease
Perisylvian Syndrome, Congenital Bilateral
Polyglucosan Body Disease, Adult
Polyneuropathy, Chronic Inflammatory Demyelinating
Pseudotumor Cerebri
Restless Legs Syndrome
Rett Syndrome
Rosenberg-Chutorian Syndrome
Santavuori Disease
Schwartz-Jampel Syndrome
Spinal Stenosis, Lumbar
Stiff Person Syndrome
Tardive Dyskinesia
Tarsal Tunnel Syndrome
Thalamic Pain Syndrome
Tourette Syndrome
Trigeminal Neuralgia
Tuberous Sclerosis
Vascular Malformation of the Brain/Brain Arteriovenous Malformation
Walker-Warburg Syndrome
Neuromuscular Disordersp. 599
Ataxia, Baltic/Mediterranean/Unverrich-Lundborg Myoclonic Epilepsy
Ataxia, Episodic Type I
Ataxia, Episodic Type II
Ataxia, Friedreich
Ataxia, Kearns-Sayre Syndrome/Chronic Progressive External Ophthalmoplegia
Ataxia, Refsum Disease
Ataxia, with Isolated Vitamin E Deficiency
Central Core Disease
Creutzfeldt-Jakob Disease
Cervical Dystonia (Spasmodic Torticollis)
Dopa-Responsive Dystonia
Embouchure Dystonia
Laryngeal Dystonia (Spasmodic Dysphonia)
Myoclonic Dystonia
Oromandibular Dystonia and Meige Syndrome
Paroxysmal Dystonias and Dyskinesias
Rapid-Onset Dystonia-Parkinsonism
Writer's Cramp
X-Linked Dystonia-Parkinsonism
Hallervorden-Spatz Disease
Lambert-Eaton Myasthenic Syndrome
Muscular Dystrophy, Becker
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery Dreifuss
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Limb Girdle
Myasthenia Gravis
Myopathy, Centronuclear and Myotubular
Myopathy, Congenital, with Fiber-Type Disproportion
Myopathy, Myofibrillar (Desmin and Desmin-Related)
Myositis, Inclusion Body
Myotonia Congenita
Neuroaxonal Dystrophy, Infantile
Spinal Bulbar Muscular Atrophy
Spinal Muscular Atrophy
Wieacker-Wolff Syndrome
Ophthalmologic Disordersp. 639
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Coats Disease
Cogan-Reese Syndrome
Duane Syndrome
Eales Disease
Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
Horner Syndrome
Iridocorneal Endothelial Syndromes
Iris Atrophy, Essential
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Lenz Microphthalmia Syndrome
Nance-Horan Syndrome
Norrie Disease
Pars Planitis
Retinal Arterial Occlusion in Young Patients
Retinal Vein Occlusion in Young Patients
Retinitis Pigmentosa
Retinoschisis, X-Linked Juvenile
Stargardt Disease
Tolosa-Hunt Syndrome
Usher Syndrome
Uveitis, Posterior
Wyburn-Mason Syndrome
Pulmonary Disordersp. 669
Acute Respiratory Distress Syndrome
Alpha 1-Antitrypsin Deficiency
Alveolar Capillary Dysplasia
Central Hypoventilation Syndrome, Idiopathic Congenital
Churg-Strauss Syndrome
Ciliary Dyskinesia, Primary
Papillomatosis, Recurrent Respiratory
Pulmonary Alveolar Proteinosis
Pulmonary Hypertension, Primary
Renal Disordersp. 679
Alport Syndrome
Blue Diaper Syndrome
Branchio-Oto-Renal Syndrome
Cystitis, Interstitial
Denys-Drash Syndrome
Exstrophy, Bladder-Epispadias-Cloacal Exstrophy Complex
Galloway-Mowat Syndrome
Hematuria, Benign Familial
Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome, Inherited
Hepatic Fibrosis, Congenital
Loken-Senior Syndrome
Medullary Cystic Kidney Disease
Medullary Sponge Kidney
MURCS Association
Nephropathy, Familial Juvenile Hyperuricemic
Polycystic Kidney Disease, Autosomal-Recessive
Renal Agenesis, Bilateral
WAGR Syndrome
Skeletal Disordersp. 701
Acromesomelic Dysplasias Due to Mutations of the CDMP-1 Gene: Grebe Syndrome and Hunter-Thompson Acromesomelic Dysplasia
Acromesomelic Dysplasia, Maroteaux Type
Antley-Bixler Syndrome
Borjeson-Forssman-Lehmann Syndrome
Campomelic Syndrome
Camurati-Engelmann Disease
Coffin-Siris Syndrome
Cornelia de Lange Syndrome
Crouzon Disease
Diastrophic Dysplasia
Femoral Hypoplasia-Unusual Facies Syndrome
Fibrodysplasia Ossificans Progressiva
Freeman-Sheldon Syndrome
Fryns Syndrome
Goldenhar Syndrome
Holt-Oram Syndrome
Hyperthermia, Malignant
Jackson-Weiss Syndrome
Klippel-Feil Syndrome
Marinesco-Sjogren Syndrome
Nail-Patella Syndrome
Noonan Syndrome
Osteolysis, Familial Expansile
Robinow Syndrome
Rubinstein-Taybi Syndrome
Saethre-Chotzen Syndrome
Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal Dysplasia Tarda
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type III
Waardenburg Syndromes
List of Resource Groupsp. 735
List of Orphan Productsp. 769
Indexp. 817
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