Articles
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Citation: Orphanet Journal of Rare Diseases 2006 1:1
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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, altho...
Citation: Orphanet Journal of Rare Diseases 2006 1:2 -
Celiac disease
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:3 -
Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar kera...
Citation: Orphanet Journal of Rare Diseases 2006 1:4 -
Otodental syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:5 -
Systemic lupus erythematosus
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:6 -
Dopamine beta-hydroxylase deficiency
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:7 -
Complete atrioventricular canal
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:8 -
Premature ovarian failure
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). ...
Citation: Orphanet Journal of Rare Diseases 2006 1:9 -
Glanzmann thrombasthenia
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:10 -
Idiopathic chronic eosinophilic pneumonia
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:11 -
Solitary median maxillary central incisor (SMMCI) syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:12 -
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of ch...
Citation: Orphanet Journal of Rare Diseases 2006 1:13 -
Thromboangiitis obliterans (Buerger's disease)
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:14 -
Alpha thalassaemia-mental retardation, X linked
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:15 -
Lowe syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:16 -
Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria)
Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megalobla...
Citation: Orphanet Journal of Rare Diseases 2006 1:17 -
Kikuchi-Fujimoto disease
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:18 -
Pfeiffer syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:19 -
Congenital contractural arachnodactyly (Beals syndrome)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, ab...
Citation: Orphanet Journal of Rare Diseases 2006 1:20 -
Carney complex (CNC)
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:21 -
Microvillous inclusion disease (microvillous atrophy)
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:22 -
Nasopharyngeal carcinoma
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:23 -
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:24 -
Hypersensitivity pneumonitis
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:25 -
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the ge...
Citation: Orphanet Journal of Rare Diseases 2006 1:26 -
Cardiomyopathy, familial dilated
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premat...
Citation: Orphanet Journal of Rare Diseases 2006 1:27 -
Biliary atresia
Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age ...
Citation: Orphanet Journal of Rare Diseases 2006 1:28 -
Walker-Warburg syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:29 -
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:30 -
Retinoblastoma
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:31 -
Congenital Cataracts – Facial Dysmorphism – Neuropathy
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:32 -
Cri du Chat syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:33 -
CHARGE syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:34 -
Brugada syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:35 -
Plummer-Vinson syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:36 -
Ollier disease
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:37 -
Multiple endocrine neoplasia type 1
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:38 -
Foetal and neonatal alloimmune thrombocytopaenia
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:39 -
Retinitis pigmentosa
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:40 -
Primary sclerosing cholangitis
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:41 -
Klinefelter syndrome and other sex chromosomal aneuploidies
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:42 -
Congenital pulmonary lymphangiectasia
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:43 -
Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:44 -
Multiple endocrine neoplasia type 2
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:45 -
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, gia...
Citation: Orphanet Journal of Rare Diseases 2006 1:46 -
Autosomal recessive cerebellar ataxias
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:47 -
Early onset torsion dystonia (Oppenheim's dystonia)
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:48 -
Pheochromocytomas and secreting paragangliomas
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 ...
Citation: Orphanet Journal of Rare Diseases 2006 1:49 -
KBG syndrome
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...
Citation: Orphanet Journal of Rare Diseases 2006 1:50
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- ISSN: 1750-1172 (electronic)