Articles

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...

Authors: Francesco Brancati, Anna Sarkozy and Bruno Dallapiccola

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 ...

Authors: Pierre-François Plouin and Anne-Paule Gimenez-Roqueplo

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...

Authors: Christoph Kamm

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...

Authors: Francesc Palau and Carmen Espinós

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...

Authors: François Lanza

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...

Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi and Maria Luisa Brandi

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 ...

Authors: Katharina Leithner, Andreas Leithner, Heimo Clar, Andreas Weinhaeusel, Roman Radl, Peter Krippl, Peter Rehak, Reinhard Windhager, Oskar A Haas and Horst Olschewski

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...

Authors: Carlo Bellini, Francesco Boccardo, Corradino Campisi and Eugenio Bonioli

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...

Authors: Jeannie Visootsak and John M Graham Jr

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...

Authors: Joy Worthington and Roger Chapman

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...

Authors: Christian Hamel

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...

Authors: Cecile Kaplan

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 ...

Authors: Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi and Maria Luisa Brandi

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...

Authors: Caroline Silve and Harald Jüppner

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...

Authors: Gottfried Novacek

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...

Authors: Carlo Napolitano and Silvia G Priori

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...

Authors: Kim D Blake and Chitra Prasad

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...

Authors: Paola Cerruti Mainardi

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...

Authors: Luba Kalaydjieva

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 ...

Authors: Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz and Laurence Desjardins

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 ...

Authors: Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba and William P Cheshire

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...

Authors: Jiri Vajsar and Harry Schachter

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 ...

Authors: Christophe Chardot

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...

Authors: Matthew RG Taylor, Elisa Carniel and Luisa Mestroni

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...

Authors: Griet Van Buggenhout and Jean-Pierre Fryns

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 ...

Authors: Yves Lacasse and Yvon Cormier

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...

Authors: HJ Girschick, P Schneider, I Haubitz, O Hiort, H Collmann, M Beer, YS Shin and HW Seyberth

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...

Authors: Bernadette Brennan

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 ...

Authors: Frank M Ruemmele, Jacques Schmitz and Olivier Goulet

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...

Authors: Jérôme Bertherat

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...

Authors: Ergül Tunçbilek and Yasemin Alanay

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...

Authors: Annick Vogels and Jean-Pierre Fryns

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...

Authors: Xavier Bosch and Antonio Guilabert

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...

Authors: Ralph Gräsbeck

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...

Authors: Mario Loi

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...

Authors: Richard Gibbons

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...

Authors: Perttu ET Arkkila

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...

Authors: Dorothea Haas and Georg F Hoffmann

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...

Authors: Roger K Hall

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...

Authors: Eric Marchand and Jean-François Cordier

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...

Authors: Alan T Nurden

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). ...

Authors: Paolo Beck-Peccoz and Luca Persani

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...

Authors: Raffaele Calabrò and Giuseppe Limongelli

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...

Authors: Jean-Michel Senard and Philippe Rouet

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...

Authors: Jessica J Manson and Anisur Rahman

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...

Authors: Agnès Bloch-Zupan and Jane R Goodman

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...

Authors: Nikos Protonotarios and Adalena Tsatsopoulou

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...

Authors: Wolfgang Holtmeier and Wolfgang F Caspary

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...

Authors: Melanie Ehrlich, Kelly Jackson and Corry Weemaes

Orphanet Journal of Rare Diseases: Launch Editorial

Authors: Ségolène Aymé, Bruno Dallapiccola and Dian Donnai