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  1. Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of ...

    Authors: Zornitza Stark and Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2009 4:5

    Content type: Review

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  2. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, b...

    Authors: Lokesh C Wijesekera and P Nigel Leigh

    Citation: Orphanet Journal of Rare Diseases 2009 4:3

    Content type: Review

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  3. Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, overr...

    Authors: Frederique Bailliard and Robert H Anderson

    Citation: Orphanet Journal of Rare Diseases 2009 4:2

    Content type: Review

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  4. Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origi...

    Authors: Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan and Emmanuel Jacquemin

    Citation: Orphanet Journal of Rare Diseases 2009 4:1

    Content type: Review

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  5. Malignant mesothelioma is a fatal asbestos-associated malignancy originating from the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as the pericardium and the tunica vaginalis. The...

    Authors: Alastair J Moore, Robert J Parker and John Wiggins

    Citation: Orphanet Journal of Rare Diseases 2008 3:34

    Content type: Review

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  6. The Orphan Drug Act (1983) established several incentives to encourage the development of orphan drugs (ODs) to treat rare diseases and conditions. This study analyzed the characteristics of OD designations, a...

    Authors: Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach and Jay Visaria

    Citation: Orphanet Journal of Rare Diseases 2008 3:33

    Content type: Research

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  7. Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms.

    Authors: Lorenzo Lo Muzio

    Citation: Orphanet Journal of Rare Diseases 2008 3:32

    Content type: Review

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  8. The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence ...

    Authors: Agatino Battaglia

    Citation: Orphanet Journal of Rare Diseases 2008 3:30

    Content type: Review

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  9. Retroperitoneal fibrosis (RPF) is a rare fibroinflammatory disease that leads to hydronephrosis and renal failure. In a case-control study, we have recently shown that asbestos exposure was the most important ...

    Authors: Toomas Uibu, Ritva Järvenpää, Jari Hakomäki, Anssi Auvinen, Eero Honkanen, Kaj Metsärinne, Pekka Roto, Heikki Saha, Jukka Uitti and Panu Oksa

    Citation: Orphanet Journal of Rare Diseases 2008 3:29

    Content type: Research

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  10. Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance...

    Authors: Paula Martins and Eduardo Castela

    Citation: Orphanet Journal of Rare Diseases 2008 3:27

    Content type: Review

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  11. Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.

    Authors: Heinz Jungbluth, Carina Wallgren-Pettersson and Jocelyn Laporte

    Citation: Orphanet Journal of Rare Diseases 2008 3:26

    Content type: Review

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  12. Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in the serum and manifests clinically by a classical triad of purpura, weakness and ar...

    Authors: Clodoveo Ferri

    Citation: Orphanet Journal of Rare Diseases 2008 3:25

    Content type: Review

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  13. Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and ...

    Authors: David Moore, Martin J Connock, Ed Wraith and Christine Lavery

    Citation: Orphanet Journal of Rare Diseases 2008 3:24

    Content type: Research

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  14. Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excre...

    Authors: Nine VAM Knoers and Elena N Levtchenko

    Citation: Orphanet Journal of Rare Diseases 2008 3:22

    Content type: Review

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  15. Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately ...

    Authors: Dag Malm and Øivind Nilssen

    Citation: Orphanet Journal of Rare Diseases 2008 3:21

    Content type: Review

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  16. Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (...

    Authors: Elizabeth Leroux and Anne Ducros

    Citation: Orphanet Journal of Rare Diseases 2008 3:20

    Content type: Review

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  17. Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble ...

    Authors: Rola Zamel, Razi Khan, Rebecca L Pollex and Robert A Hegele

    Citation: Orphanet Journal of Rare Diseases 2008 3:19

    Content type: Case Report

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  18. Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is esti...

    Authors: Lia Crotti, Giuseppe Celano, Federica Dagradi and Peter J Schwartz

    Citation: Orphanet Journal of Rare Diseases 2008 3:18

    Content type: Review

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  19. Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifes...

    Authors: Philippe Chanson and Sylvie Salenave

    Citation: Orphanet Journal of Rare Diseases 2008 3:17

    Content type: Review

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  20. Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types ...

    Authors: Samia A Temtamy and Mona S Aglan

    Citation: Orphanet Journal of Rare Diseases 2008 3:15

    Content type: Review

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  21. The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated...

    Authors: Mary C Phelan

    Citation: Orphanet Journal of Rare Diseases 2008 3:14

    Content type: Review

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  22. LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, ...

    Authors: Anna Sarkozy, Maria Cristina Digilio and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2008 3:13

    Content type: Review

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  23. McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence ...

    Authors: Claudia E Dumitrescu and Michael T Collins

    Citation: Orphanet Journal of Rare Diseases 2008 3:12

    Content type: Review

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  24. In recent years, the use of adaptive design methods in clinical research and development based on accrued data has become very popular due to its flexibility and efficiency. Based on adaptations applied, adapt...

    Authors: Shein-Chung Chow and Mark Chang

    Citation: Orphanet Journal of Rare Diseases 2008 3:11

    Content type: Review

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  25. The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (e...

    Authors: Leslie G Biesecker

    Citation: Orphanet Journal of Rare Diseases 2008 3:10

    Content type: Review

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  26. The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just ...

    Authors: Sivakumar Sathasivam

    Citation: Orphanet Journal of Rare Diseases 2008 3:9

    Content type: Review

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  27. Idiopathic pulmonary fibrosis (IPF) is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease w...

    Authors: Eric B Meltzer and Paul W Noble

    Citation: Orphanet Journal of Rare Diseases 2008 3:8

    Content type: Review

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  28. Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, ...

    Authors: Michaela Auer-Grumbach

    Citation: Orphanet Journal of Rare Diseases 2008 3:7

    Content type: Review

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  29. : Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrit...

    Authors: Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer and Jean-Pierre Cézard

    Citation: Orphanet Journal of Rare Diseases 2008 3:6

    Content type: Review

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  30. Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy le...

    Authors: Stéphane Vignes and Jérôme Bellanger

    Citation: Orphanet Journal of Rare Diseases 2008 3:5

    Content type: Review

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  31. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest f...

    Authors: Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2008 3:4

    Content type: Review

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  32. Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be hi...

    Authors: Judith VMG Bovée

    Citation: Orphanet Journal of Rare Diseases 2008 3:3

    Content type: Review

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  33. Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of...

    Authors: Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban and Nathalie Guffon

    Citation: Orphanet Journal of Rare Diseases 2008 3:2

    Content type: Case Report

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  34. Primary biliary cirrhosis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver fai...

    Authors: Teru Kumagi and EJenny Heathcote

    Citation: Orphanet Journal of Rare Diseases 2008 3:1

    Content type: Review

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  35. Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hea...

    Authors: Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele and Paul N Durrington

    Citation: Orphanet Journal of Rare Diseases 2007 2:49

    Content type: Case Report

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  36. Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 populat...

    Authors: Amit S Verma and David R FitzPatrick

    Citation: Orphanet Journal of Rare Diseases 2007 2:47

    Content type: Review

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  37. Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. It is an ubiquitous disease with incidence (varying according to age, sex, race ...

    Authors: Hilario Nunes, Diane Bouvry, Paul Soler and Dominique Valeyre

    Citation: Orphanet Journal of Rare Diseases 2007 2:46

    Content type: Review

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  38. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from...

    Authors: Gaetano Thiene, Domenico Corrado and Cristina Basso

    Citation: Orphanet Journal of Rare Diseases 2007 2:45

    Content type: Review

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  39. Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscl...

    Authors: Vern C Juel and Janice M Massey

    Citation: Orphanet Journal of Rare Diseases 2007 2:44

    Content type: Review

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  40. Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism ...

    Authors: Karen Grønskov, Jakob Ek and Karen Brondum-Nielsen

    Citation: Orphanet Journal of Rare Diseases 2007 2:43

    Content type: Review

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  41. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle par...

    Authors: Livia Garavelli and Paola Cerruti Mainardi

    Citation: Orphanet Journal of Rare Diseases 2007 2:42

    Content type: Review

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  42. Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. The exact inciden...

    Authors: Roxane McKay

    Citation: Orphanet Journal of Rare Diseases 2007 2:41

    Content type: Review

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  43. Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the dis...

    Authors: Etienne Mornet

    Citation: Orphanet Journal of Rare Diseases 2007 2:40

    Content type: Review

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  44. Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease wi...

    Authors: Farnoosh Farrokhi and Michael F Vaezi

    Citation: Orphanet Journal of Rare Diseases 2007 2:38

    Content type: Review

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