Skip to main content

Articles

Page 83 of 83

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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