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  1. Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, a...

    Authors: Maria Cristina Digilio and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2010 5:25

    Content type: Review

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  2. Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure ...

    Authors: Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux and Emile Levy

    Citation: Orphanet Journal of Rare Diseases 2010 5:24

    Content type: Review

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  3. To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.

    Authors: Munira Borhany, Zaen Pahore, Zeeshan ul Qadr, Muhammad Rehan, Arshi Naz, Asif Khan, Saqib Ansari, Tasneem Farzana, Muhammad Nadeem, Syed Amir Raza and Tahir Shamsi

    Citation: Orphanet Journal of Rare Diseases 2010 5:23

    Content type: Research

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  4. Interstitial lung disease (ILD) in infants and children comprises a large spectrum of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. These disorders are ch...

    Authors: Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux and Harriet Corvol

    Citation: Orphanet Journal of Rare Diseases 2010 5:22

    Content type: Review

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  5. Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-...

    Authors: Francesco Brancati, Bruno Dallapiccola and Enza Maria Valente

    Citation: Orphanet Journal of Rare Diseases 2010 5:20

    Content type: Review

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  6. Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenita...

    Authors: Thomas Eggermann, Matthias Begemann, Gerhard Binder and Sabrina Spengler

    Citation: Orphanet Journal of Rare Diseases 2010 5:19

    Content type: Review

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  7. Rituximab is a monoclonal antibody inducing depletion of B lymphocytes and presently approved for the treatment of non-Hodgkin's lymphoma and rheumatoid arthritis. Here is the first report of the use of this d...

    Authors: Jelka G Orsoni, Bruno Laganà, Pierangela Rubino, Laura Zavota, Salvatore Bacciu and Paolo Mora

    Citation: Orphanet Journal of Rare Diseases 2010 5:18

    Content type: Case Report

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  8. Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some m...

    Authors: Maynika V Rastogi and Stephen H LaFranchi

    Citation: Orphanet Journal of Rare Diseases 2010 5:17

    Content type: Review

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  9. Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapid...

    Authors: Marie T Vanier

    Citation: Orphanet Journal of Rare Diseases 2010 5:16

    Content type: Review

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  10. Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in 47,XYY persons are still limited.

    Authors: Kirstine Stochholm, Svend Juul and Claus H Gravholt

    Citation: Orphanet Journal of Rare Diseases 2010 5:15

    Content type: Research

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  11. Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a ...

    Authors: Louise LC Pinto, Taiane A Vieira, Roberto Giugliani and Ida VD Schwartz

    Citation: Orphanet Journal of Rare Diseases 2010 5:14

    Content type: Review

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  12. Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.

    Authors: Cornelis L Harteveld and Douglas R Higgs

    Citation: Orphanet Journal of Rare Diseases 2010 5:13

    Content type: Review

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  13. Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types a...

    Authors: Jo-David Fine

    Citation: Orphanet Journal of Rare Diseases 2010 5:12

    Content type: Review

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  14. Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinicall...

    Authors: Renzo Galanello and Raffaella Origa

    Citation: Orphanet Journal of Rare Diseases 2010 5:11

    Content type: Review

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  15. Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked t...

    Authors: Hilbert Grievink and Kathryn M Stowell

    Citation: Orphanet Journal of Rare Diseases 2010 5:10

    Content type: Research

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  16. Surgically correctable forms of primary aldosteronism are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. Unilater...

    Authors: Laurence Amar, Pierre-François Plouin and Olivier Steichen

    Citation: Orphanet Journal of Rare Diseases 2010 5:9

    Content type: Review

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  17. Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occur...

    Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson

    Citation: Orphanet Journal of Rare Diseases 2010 5:8

    Content type: Review

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  18. Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It i...

    Authors: Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2010 5:7

    Content type: Case Report

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  19. Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting...

    Authors: Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién and Luis A Alcaraz

    Citation: Orphanet Journal of Rare Diseases 2010 5:6

    Content type: Case Report

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  20. Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth...

    Authors: Vassili Valayannopoulos, Helen Nicely, Paul Harmatz and Sean Turbeville

    Citation: Orphanet Journal of Rare Diseases 2010 5:5

    Content type: Review

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  21. Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cysti...

    Authors: Serena Botto Poala, Gianni Bisogno and Raffaella Colombatti

    Citation: Orphanet Journal of Rare Diseases 2010 5:4

    Content type: Case Report

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  22. To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.

    Authors: Sébastien Héritier, Martine Le Merrer, Francis Jaubert, Michèle Bigorre, Marion Gillibert-Yvert, Benoit de Courtivron, Makram Ziade, Yves Bertrand, Christian Carrie, Pascal Chastagner, Cécile Bost-Bru, Jean-Claude Léonard, Marie Ouache, Liliane Boccon-Gibod, Pierre Mary, Jacques de Blic…

    Citation: Orphanet Journal of Rare Diseases 2010 5:3

    Content type: Research

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  23. Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juv...

    Authors: Lidia Larizza, Gaia Roversi and Ludovica Volpi

    Citation: Orphanet Journal of Rare Diseases 2010 5:2

    Content type: Review

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  24. Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, a...

    Authors: Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez and Fernando Santos

    Citation: Orphanet Journal of Rare Diseases 2010 5:1

    Content type: Case Report

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  25. Pulmonary alveolar proteinosis (PAP) is a syndrome with multiple etiologies and is often deadly in lysinuric protein intolerance (LPI). At present, PAP is treated by whole lung lavage or with granulocyte/monoc...

    Authors: David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann and Nades Palaniyar

    Citation: Orphanet Journal of Rare Diseases 2009 4:29

    Content type: Research

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  26. A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged l...

    Authors: David Cassiman, Renate Zeevaert, Elisabeth Holme, Eli-Anne Kvittingen and Jaak Jaeken

    Citation: Orphanet Journal of Rare Diseases 2009 4:28

    Content type: Case Report

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  27. Regulators and payers have to strike a balance between the needs of the patient and the optimal allocation of resources. Drugs indicated for rare diseases (orphan medicines) are a special group in this context...

    Authors: Pieter Stolk, Harald E Heemstra, Hubert GM Leufkens, Brigitte Bloechl-Daum and Eibert R Heerdink

    Citation: Orphanet Journal of Rare Diseases 2009 4:27

    Content type: Research

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  28. Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in genetics and pathomechanisms, these often lethal di...

    Authors: Matthias Griese, Melanie Haug, Frank Brasch, Achim Freihorst, Peter Lohse, Rüdiger von Kries, Theodor Zimmermann and Dominik Hartl

    Citation: Orphanet Journal of Rare Diseases 2009 4:26

    Content type: Research

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  29. Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with othe...

    Authors: Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2009 4:25

    Content type: Research

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  30. Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity w...

    Authors: Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2009 4:24

    Content type: Case Report

    Published on:

  31. Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending ...

    Authors: Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig and Wolfgang H Rösch

    Citation: Orphanet Journal of Rare Diseases 2009 4:23

    Content type: Review

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  32. Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1...

    Authors: Elizabeth Half, Dani Bercovich and Paul Rozen

    Citation: Orphanet Journal of Rare Diseases 2009 4:22

    Content type: Review

    Published on:

  33. Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneur...

    Authors: Marco Ritelli, Bruno Drera, Mariano Vicchio, Giovanni Puppini, Paolo Biban, Mara Pilati, Maria Antonia Prioli, Sergio Barlati and Marina Colombi

    Citation: Orphanet Journal of Rare Diseases 2009 4:20

    Content type: Case Report

    Published on:

  34. Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of ph...

    Authors: Mario Lecha, Hervé Puy and Jean-Charles Deybach

    Citation: Orphanet Journal of Rare Diseases 2009 4:19

    Content type: Review

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  35. Kaposi sarcoma is a low-grade mesenchymal tumor involving blood and lymphatic vessels. There are four variants of this disease, each presenting a different clinical manifestation: classic or sporadic, African ...

    Authors: Taisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, Gláucia Zanetti, Alberto Domingues Vianna, Alair ASMD Santos and Luiz Felipe Nobre

    Citation: Orphanet Journal of Rare Diseases 2009 4:18

    Content type: Review

    Published on:

  36. Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevale...

    Authors: Jonathan T Forsey, Ola A Elmasry and Robin P Martin

    Citation: Orphanet Journal of Rare Diseases 2009 4:17

    Content type: Review

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  37. This case report describes for the first time acute coronary syndrome in a 67-year old patient after oral intake of naratriptan for migraine. So far in the literature, only sumatriptan, zolmitriptan and frovat...

    Authors: Claudia R Weder and Markus Schneemann

    Citation: Orphanet Journal of Rare Diseases 2009 4:15

    Content type: Case Report

    Published on:

  38. We report a patient who presented with inflammatory back pain due to multisegmental spondylitis. Following a vertebral biopsy which failed to detect an infectious organism, the patient was treated with etanerc...

    Authors: David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall and Ulrich A Walker

    Citation: Orphanet Journal of Rare Diseases 2009 4:13

    Content type: Case Report

    Published on:

  39. AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number o...

    Authors: Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2009 4:12

    Content type: Research

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  40. Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, an...

    Authors: Reha M Toydemir and Michael J Bamshad

    Citation: Orphanet Journal of Rare Diseases 2009 4:11

    Content type: Review

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  41. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, which rapidly leads to chronic respiratory failure requiring mechanical ventilation. Currently, forced vital capacity (FVC) < 50% is consider...

    Authors: Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria and Onofrio Resta

    Citation: Orphanet Journal of Rare Diseases 2009 4:10

    Content type: Research

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  42. Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 bi...

    Authors: Teresa Mattina, Concetta Simona Perrotta and Paul Grossfeld

    Citation: Orphanet Journal of Rare Diseases 2009 4:9

    Content type: Review

    Published on:

  43. Dengue hemorrhagic fever is an acute infectious disease caused by dengue virus. We described the high-resolution CT findings in a 70-year-old male with the disease, which was diagnosed by clinical examination ...

    Authors: Edson Marchiori, José LuizN Ferreira, Carolina N Bittencourt, César AdeAraújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos and Alberto D Vianna

    Citation: Orphanet Journal of Rare Diseases 2009 4:8

    Content type: Case Report

    Published on:

  44. The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vog...

    Authors: Gordon K Klintworth

    Citation: Orphanet Journal of Rare Diseases 2009 4:7

    Content type: Review

    Published on:

  45. Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symp...

    Authors: Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet and Agnès Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2009 4:6

    Content type: Research

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  46. Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the ...

    Authors: Damien Sanlaville, Caroline Schluth-Bolard and Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2009 4:4

    Content type: Review

    Published on: