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  1. Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in...

    Authors: Marc A Levitt and Alberto Peña
    Citation: Orphanet Journal of Rare Diseases 2007 2:33
    Content type: Review Published on:

    The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2012 7:98

  2. Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucen...

    Authors: Dominique P Germain
    Citation: Orphanet Journal of Rare Diseases 2007 2:32
    Content type: Review Published on:

  3. Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. Marked cli...

    Authors: Heinz Jungbluth
    Citation: Orphanet Journal of Rare Diseases 2007 2:31
    Content type: Review Published on:

  6. Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prev...

    Authors: Pierre-François Plouin, Jérôme Perdu, Agnès La Batide-Alanore, Pierre Boutouyrie, Anne-Paule Gimenez-Roqueplo and Xavier Jeunemaitre
    Citation: Orphanet Journal of Rare Diseases 2007 2:28
    Content type: Review Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  11. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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 Published on:

  16. 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 Published on:

  17. 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 Published on:

  18. 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 Published on:

  19. 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 Published on:

  20. 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 Published on:

  21. 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 Published on:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  31. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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:

  38. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172