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  1. A coronary arterial fistula is a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. This is a rare defect and usually occurs in isolation. Its exact incidence is unk...

    Authors: Shakeel A Qureshi
    Citation: Orphanet Journal of Rare Diseases 2006 1:51
  2. KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndr...

    Authors: Francesco Brancati, Anna Sarkozy and Bruno Dallapiccola
    Citation: Orphanet Journal of Rare Diseases 2006 1:50
  3. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension ...

    Authors: Pierre-François Plouin and Anne-Paule Gimenez-Roqueplo
    Citation: Orphanet Journal of Rare Diseases 2006 1:49
  4. Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated...

    Authors: Christoph Kamm
    Citation: Orphanet Journal of Rare Diseases 2006 1:48
  5. Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and chara...

    Authors: Francesc Palau and Carmen Espinós
    Citation: Orphanet Journal of Rare Diseases 2006 1:47
  6. Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare hereditary complex disorder characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma (PHEO) and other hy...

    Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi and Maria Luisa Brandi
    Citation: Orphanet Journal of Rare Diseases 2006 1:45
  7. It is well established that asbestos is the most important cause of mesothelioma. The role of simian virus 40 (SV40) in mesothelioma development, on the other hand, remains controversial. This potential human ...

    Authors: Katharina Leithner, Andreas Leithner, Heimo Clar, Andreas Weinhaeusel, Roman Radl, Peter Krippl, Peter Rehak, Reinhard Windhager, Oskar A Haas and Horst Olschewski
    Citation: Orphanet Journal of Rare Diseases 2006 1:44
  8. Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The p...

    Authors: Carlo Bellini, Francesco Boccardo, Corradino Campisi and Eugenio Bonioli
    Citation: Orphanet Journal of Rare Diseases 2006 1:43
  9. The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of s...

    Authors: Jeannie Visootsak and John M Graham Jr
    Citation: Orphanet Journal of Rare Diseases 2006 1:42
  10. Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown aetiology characterised by inflammation and fibrosis of the biliary tree. The mean age at diagnosis is 40 years and men ar...

    Authors: Joy Worthington and Roger Chapman
    Citation: Orphanet Journal of Rare Diseases 2006 1:41
  11. Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is a...

    Authors: Christian Hamel
    Citation: Orphanet Journal of Rare Diseases 2006 1:40
  12. Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually...

    Authors: Cecile Kaplan
    Citation: Orphanet Journal of Rare Diseases 2006 1:39
  13. Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised ...

    Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi and Maria Luisa Brandi
    Citation: Orphanet Journal of Rare Diseases 2006 1:38
  14. Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondroma...

    Authors: Caroline Silve and Harald Jüppner
    Citation: Orphanet Journal of Rare Diseases 2006 1:37
  15. Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome i...

    Authors: Gottfried Novacek
    Citation: Orphanet Journal of Rare Diseases 2006 1:36
  16. A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudde...

    Authors: Carlo Napolitano and Silvia G Priori
    Citation: Orphanet Journal of Rare Diseases 2006 1:35
  17. CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, a...

    Authors: Kim D Blake and Chitra Prasad
    Citation: Orphanet Journal of Rare Diseases 2006 1:34
  18. The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infant...

    Authors: Paola Cerruti Mainardi
    Citation: Orphanet Journal of Rare Diseases 2006 1:33
  19. Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Rom...

    Authors: Luba Kalaydjieva
    Citation: Orphanet Journal of Rare Diseases 2006 1:32
  20. Retinoblastoma is a rare eye tumor of childhood that arises in the retina. It is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000–20,000 live births. The two most ...

    Authors: Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz and Laurence Desjardins
    Citation: Orphanet Journal of Rare Diseases 2006 1:31
  21. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive ...

    Authors: Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba and William P Cheshire
    Citation: Orphanet Journal of Rare Diseases 2006 1:30
  22. Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown...

    Authors: Jiri Vajsar and Harry Schachter
    Citation: Orphanet Journal of Rare Diseases 2006 1:29
  23. Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age ...

    Authors: Christophe Chardot
    Citation: Orphanet Journal of Rare Diseases 2006 1:28
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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