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  1. Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 1...

    Authors: Geneviève Baujat and Martine Le Merrer

    Citation: Orphanet Journal of Rare Diseases 2007 2:27

    Content type: Review

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  2. Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid...

    Authors: Thomas Pusl and Ulrich Beuers

    Citation: Orphanet Journal of Rare Diseases 2007 2:26

    Content type: Review

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  3. Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is prob...

    Authors: Heinz Jungbluth

    Citation: Orphanet Journal of Rare Diseases 2007 2:25

    Content type: Review

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  4. Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cas...

    Authors: Lewis Spitz

    Citation: Orphanet Journal of Rare Diseases 2007 2:24

    Content type: Review

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  5. Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the s...

    Authors: Jean Anne Connor and Ravi Thiagarajan

    Citation: Orphanet Journal of Rare Diseases 2007 2:23

    Content type: Review

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  6. Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, aff...

    Authors: Jérôme Honnorat and Jean-Christophe Antoine

    Citation: Orphanet Journal of Rare Diseases 2007 2:22

    Content type: Review

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  7. Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the de...

    Authors: Henry Rosenberg, Mark Davis, Danielle James, Neil Pollock and Kathryn Stowell

    Citation: Orphanet Journal of Rare Diseases 2007 2:21

    Content type: Review

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  8. Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. ...

    Authors: Olivier Goulet, Julie Salomon, Frank Ruemmele, Natacha Patey-Mariaud de Serres and Nicole Brousse

    Citation: Orphanet Journal of Rare Diseases 2007 2:20

    Content type: Review

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  9. Pyoderma gangrenosum (PG) is a rare noninfectious neutrophilic dermatosis. Clinically it starts with sterile pustules that rapidly progress and turn into painful ulcers of variable depth and size with undermin...

    Authors: Uwe Wollina

    Citation: Orphanet Journal of Rare Diseases 2007 2:19

    Content type: Review

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  10. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. The point prevalence of this tumour is approximately 2/100,000. The o...

    Authors: Matthew R Garnett, Stéphanie Puget, Jacques Grill and Christian Sainte-Rose

    Citation: Orphanet Journal of Rare Diseases 2007 2:18

    Content type: Review

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  11. Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equ...

    Authors: Peter JM Crawford, Michael Aldred and Agnes Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2007 2:17

    Content type: Review

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  12. Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functio...

    Authors: Ellinor Ristoff and Agne Larsson

    Citation: Orphanet Journal of Rare Diseases 2007 2:16

    Content type: Review

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  13. Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunctio...

    Authors: Soon Koo Baik, Tamer R Fouad and Samuel S Lee

    Citation: Orphanet Journal of Rare Diseases 2007 2:15

    Content type: Review

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  14. Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and seconda...

    Authors: Michele Ceruti, Giuseppe Rodi, Giulia M Stella, Andrea Adami, Antonia Bolongaro, Aldo Baritussio, Ernesto Pozzi and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2007 2:14

    Content type: Case Report

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  15. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteri...

    Authors: Karine Morcel, Laure Camborieux and Daniel Guerrier

    Citation: Orphanet Journal of Rare Diseases 2007 2:13

    Content type: Review

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  16. Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac tumours ar...

    Authors: Orhan Uzun, Dirk G Wilson, Gordon M Vujanic, Jonathan M Parsons and Joseph V De Giovanni

    Citation: Orphanet Journal of Rare Diseases 2007 2:11

    Content type: Review

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  17. To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid artritis (RA). In addition, to explore th...

    Authors: Heidi Johansen, Inger-Lise Andresen, Eva E Naess and Kare Birger Hagen

    Citation: Orphanet Journal of Rare Diseases 2007 2:10

    Content type: Research

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  18. To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.

    Authors: Eric Scott Sills, MJ Burns, Laurinda D Parker, Lisa P Carroll, Lisa L Kephart, CS Dyer, Peter R Papenhausen and Jessica G Davis

    Citation: Orphanet Journal of Rare Diseases 2007 2:9

    Content type: Case Study

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  19. Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and t...

    Authors: Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent and Véronique David

    Citation: Orphanet Journal of Rare Diseases 2007 2:8

    Content type: Review

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  20. Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus ex...

    Authors: Christian P Hamel

    Citation: Orphanet Journal of Rare Diseases 2007 2:7

    Content type: Review

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  21. Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells. The classic osteosarcoma is a rare (0.2% of all malignan...

    Authors: Piero Picci

    Citation: Orphanet Journal of Rare Diseases 2007 2:6

    Content type: Review

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  22. DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndrome...

    Authors: Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn and Detlev Schindler

    Citation: Orphanet Journal of Rare Diseases 2007 2:5

    Content type: Case Report

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  23. Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial ...

    Authors: Ineke van der Burgt

    Citation: Orphanet Journal of Rare Diseases 2007 2:4

    Content type: Review

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  24. Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the ge...

    Authors: Jean B Brière

    Citation: Orphanet Journal of Rare Diseases 2007 2:3

    Content type: Review

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  25. We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were short...

    Authors: Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida and Klaus Klaushofer

    Citation: Orphanet Journal of Rare Diseases 2007 2:2

    Content type: Case Report

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  26. Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological feat...

    Authors: Jonas Rosendahl, Hans Bödeker, Joachim Mössner and Niels Teich

    Citation: Orphanet Journal of Rare Diseases 2007 2:1

    Content type: Review

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  27. 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

    Content type: Review

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  28. 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

    Content type: Review

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  29. 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

    Content type: Review

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  30. 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

    Content type: Review

    Published on:

  31. 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

    Content type: Review

    Published on:

  32. 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

    Content type: Review

    Published on:

  33. 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

    Content type: Research

    Published on:

  34. 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

    Content type: Review

    Published on:

  35. 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

    Content type: Review

    Published on:

  36. 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

    Content type: Review

    Published on:

  37. 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

    Content type: Review

    Published on:

  38. 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

    Content type: Review

    Published on:

  39. 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

    Content type: Review

    Published on:

  40. 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

    Content type: Review

    Published on:

  41. 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

    Content type: Review

    Published on:

  42. 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

    Content type: Review

    Published on:

  43. 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

    Content type: Review

    Published on:

  44. 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

    Content type: Review

    Published on:

  45. 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

    Content type: Review

    Published on:

  46. 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

    Content type: Review

    Published on:

  47. 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

    Content type: Review

    Published on:

  48. 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

    Content type: Review

    Published on: