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  1. 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
  2. : 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months) associated with e...

    Authors: Florence E Roufosse, Michel Goldman and Elie Cogan
    Citation: Orphanet Journal of Rare Diseases 2007 2:37
  19. Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, an...

    Authors: Geneviève Baujat and Valérie Cormier-Daire
    Citation: Orphanet Journal of Rare Diseases 2007 2:36
  20. Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial ce...

    Authors: David A Jacobsohn and Georgia B Vogelsang
    Citation: Orphanet Journal of Rare Diseases 2007 2:35
  21. 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

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

  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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