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  1. Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premat...

    Authors: Matthew RG Taylor, Elisa Carniel and Luisa Mestroni

    Citation: Orphanet Journal of Rare Diseases 2006 1:27

    Content type: Review

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  2. Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. The incidence of HP ...

    Authors: Yves Lacasse and Yvon Cormier

    Citation: Orphanet Journal of Rare Diseases 2006 1:25

    Content type: Review

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  3. Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how t...

    Authors: HJ Girschick, P Schneider, I Haubitz, O Hiort, H Collmann, M Beer, YS Shin and HW Seyberth

    Citation: Orphanet Journal of Rare Diseases 2006 1:24

    Content type: Case Study

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  4. Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx. The annual incidence of NPC in the UK is 0.3 per million at age 0–14 years, and 1 to...

    Authors: Bernadette Brennan

    Citation: Orphanet Journal of Rare Diseases 2006 1:23

    Content type: Review

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  5. Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by ...

    Authors: Frank M Ruemmele, Jacques Schmitz and Olivier Goulet

    Citation: Orphanet Journal of Rare Diseases 2006 1:22

    Content type: Review

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  6. The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The mos...

    Authors: Jérôme Bertherat

    Citation: Orphanet Journal of Rare Diseases 2006 1:21

    Content type: Review

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  7. Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, ab...

    Authors: Ergül Tunçbilek and Yasemin Alanay

    Citation: Orphanet Journal of Rare Diseases 2006 1:20

    Content type: Review

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  8. Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found...

    Authors: Annick Vogels and Jean-Pierre Fryns

    Citation: Orphanet Journal of Rare Diseases 2006 1:19

    Content type: Review

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  9. Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent sym...

    Authors: Xavier Bosch and Antonio Guilabert

    Citation: Orphanet Journal of Rare Diseases 2006 1:18

    Content type: Review

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  10. Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked dis...

    Authors: Mario Loi

    Citation: Orphanet Journal of Rare Diseases 2006 1:16

    Content type: Review

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  11. X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are u...

    Authors: Richard Gibbons

    Citation: Orphanet Journal of Rare Diseases 2006 1:15

    Content type: Review

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  12. Thromboangiitis obliterans or Buerger's disease is a segmental occlusive inflammatory condition of arteries and veins, characterized by thrombosis and recanalization of the affected vessels. It is a non-athero...

    Authors: Perttu ET Arkkila

    Citation: Orphanet Journal of Rare Diseases 2006 1:14

    Content type: Review

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  13. Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38...

    Authors: Roger K Hall

    Citation: Orphanet Journal of Rare Diseases 2006 1:12

    Content type: Review

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  14. Idiopathic chronic eosinophilic pneumonia (ICEP) is characterized by subacute or chronic respiratory and general symptoms, alveolar and/or blood eosinophilia, and peripheral pulmonary infiltrates on chest imag...

    Authors: Eric Marchand and Jean-François Cordier

    Citation: Orphanet Journal of Rare Diseases 2006 1:11

    Content type: Review

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  15. Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitativ...

    Authors: Alan T Nurden

    Citation: Orphanet Journal of Rare Diseases 2006 1:10

    Content type: Review

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  16. Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years (secondary amenorrhea). ...

    Authors: Paolo Beck-Peccoz and Luca Persani

    Citation: Orphanet Journal of Rare Diseases 2006 1:9

    Content type: Review

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  17. Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable de...

    Authors: Raffaele Calabrò and Giuseppe Limongelli

    Citation: Orphanet Journal of Rare Diseases 2006 1:8

    Content type: Review

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  18. Dopamine beta-hydroxylase (DβH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma...

    Authors: Jean-Michel Senard and Philippe Rouet

    Citation: Orphanet Journal of Rare Diseases 2006 1:7

    Content type: Review

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  19. Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease, which is autoimmune in origin and is characterized by the presence of autoantibodies directed against nuclear antigens. It is a multi-s...

    Authors: Jessica J Manson and Anisur Rahman

    Citation: Orphanet Journal of Rare Diseases 2006 1:6

    Content type: Review

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  20. The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodon...

    Authors: Agnès Bloch-Zupan and Jane R Goodman

    Citation: Orphanet Journal of Rare Diseases 2006 1:5

    Content type: Review

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  21. Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins...

    Authors: Wolfgang Holtmeier and Wolfgang F Caspary

    Citation: Orphanet Journal of Rare Diseases 2006 1:3

    Content type: Review

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