Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

580 results found
Article

Ortner syndrome

Ortner syndrome, also known as cardiovocal syndrome, is characterized by hoarse voice resulting from left recurrent laryngeal nerve palsy secondary to a cardiovascular disorder. Pathology Left recurrent laryngeal nerve palsy in this condition is due to traction or compression of the nerve betw...
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Osmotic demyelination syndrome

Osmotic demyelination syndrome refers to acute demyelination seen in the setting of osmotic changes, typically with the rapid correction of hyponatremia. It is the more recent term replacing central pontine myelinolysis, recognizing that extrapontine structures can also be affected, previously k...
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Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder. Epidemiology OS-CS is extremel...
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Osteoporosis pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta.  Epidemiology This disease is encountered in approximately 1 in 2 million births.  Pathology T...
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Otopalatodigital syndrome type I

Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of  skeletal dysplasia hearing loss cleft palate and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).  It is ...
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Ovarian hyperstimulation syndrome

Ovarian hyperstimulation syndrome (OHSS) is a complication of ovarian stimulation treatment (ovarian induction therapy) for in vitro fertilisation. Rarely, it may also occur as a spontaneous event in pregnancy (see spontaneous ovarian hyperstimulation later in the article). The clinical syndrom...
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Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein (ovarian venous varix) causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein...
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Paget-Schrötter syndrome

Paget-Schrötter syndrome, alternatively spelled Paget-Schroetter syndrome and also known as effort thrombosis, refers to primary thrombosis of the axillary and/or subclavian vein. It can be thought of as a venous equivalent of thoracic outlet syndrome. Epidemiology It is associated with forced...
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Pallister-Hall syndrome

Pallister-Hall syndrome displays a wide range of severity and is characterized by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4. Epidemiology Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...
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Pallister Killian syndrome

Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly. Epidemiology It may be more prevalent in births from women of advanced age 4. Clinical presentation Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...
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Pancoast syndrome

Pancoast syndrome (historically known as Ciuffini-Pancoast-Tobías syndrome, Hare syndrome or variation thereof) results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumor or, less commonly, from other tumors - or even non-malignant disease - involving the lung apex...
Article

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN), historically also known as Hallervorden-Spatz syndrome, is an autosomal recessive disorder causing involuntary spasticity and progressive dementia. It is a subset of neurodegeneration with brain iron accumulation (NBIA). Epidemiology Cla...
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Paradoxical brain herniation

Paradoxical brain herniation, also known as sinking skin flap syndrome or syndrome of the trephined, is a rare and potentially fatal complication of decompressive craniectomy.  Pathology Atmospheric pressure exceeding intracranial pressure at the craniectomy results in displacement of the brai...
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Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...
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Parinaud syndrome

Parinaud syndrome, also known as the dorsal midbrain syndrome, is a supranuclear vertical gaze disturbance caused by compression of the superior tectal plate. Clinical presentation Parinaud syndrome is characterized by a classic triad of findings: upward gaze palsy, often manifesting as diplo...
Article

Parkinson-plus syndrome

Parkinson-plus syndrome refers to a loose group of neurodegenerative disorders that are characterized by features of Parkinson disease but with other neurological symptoms/signs. They have a poor response to levodopa, and mostly have fairly characteristic neuroimaging features.  Conditions incl...
Article

Parry-Romberg syndrome

Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), is a rare progressive craniofacial disorder (phakomatosis). It is classically characterized by a slow progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involves ...
Article

Parsonage-Turner syndrome

Parsonage-Turner syndrome is an acute idiopathic brachial neuritis. Epidemiology There is male predominance (M:F 2:1 to 11.5:1) 1. Patients from 3 months to 85 years old have been reported, but the majority are between 3rd to 7th decade of life. Clinical presentation The presentation is typi...
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Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. Patau syndrome along with Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days...
Article

Pelvic congestion syndrome

Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.  Epidemiology It tends to be more common ...
Article

Pendred syndrome

Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss.  Epidemiology It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness. Pathology Ther...
Article

Pepper syndrome

Pepper syndrome is of interest only (the term is not readily used in day-to-day practice), and refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). 
Article

Peroxisome biogenesis disorder

Peroxisome biogenesis disorders (PBDs) are autosomal recessive, inborn errors of peroxisomes, a eukaryotic cell organelle critical to the breakdown of very long chain fatty acids via beta-oxidation.  Clinical presentation There are two main groups 1: Zellweger spectrum disorder (ZSD) Zellweg...
Article

Perry syndrome

Perry syndrome is a rare, progressive, hereditary neurodegenerative movement disorder and TDP-43 proteinopathy. Epidemiology Perry syndrome is considered to be very rare, generally isolated to select families who carry the mutation implicated in the disease 1,2. In one study, the age on onset ...
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Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterized by: multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and esophagus are spared mucocutan...
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Pfeiffer syndrome

Pfeiffer syndrome (also known as type V acrocephalosyndactyly) is characterized by skull and limb abnormalities. Epidemiology It affects about 1 in 100,000 births Clinical presentation craniosynostosis hypertelorism proptosis maxillary hypoplasia brachydactyly syndactyly Pathology Pfe...
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PHACE syndrome

PHACE syndrome, also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: hemangiomas A: arterial anomalies C: coarctation of the aorta and ca...
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Phlegmasia cerulea dolens

Phlegmasia cerulea dolens (PCD) is an uncommon complication of deep venous thrombosis, which results from extensive thrombotic occlusion of the major and collateral veins of an extremity (usually the legs). Epidemiology Left leg is more commonly affected than the right 4. Risk factors Risk f...
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Pickardt syndrome

Pickardt syndrome also known as Pickardt-Fahlbusch syndrome is a rare syndrome characterized by tertiary hypothyroidism, hyperprolactinemia and other pituitary hormone deficiencies resulting from interruption of the portal blood supply of the anterior pituitary via the infundibulum which drains ...
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Pickwickian syndrome

Pickwickian syndrome, or obesity hypoventilation syndrome (OHS), comprises the triad of obesity (BMI ≥30 kg/m2), daytime hypoventilation (awake hypercapnia and hypoxemia), and sleep-disordered breathing in the absence of alternative explanations (e.g. severe parenchymal lung disease, mechanical ...
Article

Pinch off syndrome

Pinch-off syndrome is a spontaneous catheter fracture, which is seen as a complication of subclavian venous catheterization. Epidemiology It is a known complication of central venous catheterization with a much-reduced incidence in current practice and is generally considered to be rare. Radi...
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Pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. Epidemiology Pituitary stalk interruption syndrome...
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Plummer-Vinson syndrome

Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features: dysphagia iron-deficiency anemia weight loss esophageal webs or hypopharyngeal webs The condition is more common in women.
Article

POEMS syndrome

POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly hepatomegaly, splenomegaly or lymphadenopathy E: endocrinopathy diabete...
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Poland-Möbius syndrome

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3
Article

Poland syndrome

Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognized cause of unilateral hyperlucent hemithorax.  Epidemiology Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimat...
Article

Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.  The diagnosis of PCOS generally requires any two of the following three criteria for the diagnosis, as well as the exclusion of other et...
Article

Polydactyly

Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as: pre-axial polydactyly: extra digit(s) towards the thumb/hallux (radially) post-axial polydactyly: extra digit(...
Article

Polysplenia syndrome

Polysplenia syndrome, also known as left isomerism, is a type of heterotaxy syndrome where there are multiple spleens congenitally as part of left-sided isomerism. Epidemiology Polysplenia is seen predominantly in female patients. It is usually diagnosed in childhood or adulthood, later than a...
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Popliteal artery entrapment syndrome

Popliteal artery entrapment syndrome (PAES) refers to symptomatic compression or occlusion of the popliteal artery due to a developmentally abnormal positioning of the popliteal artery in relation to its surrounding structures such as with the medial head of gastrocnemius (MHG) or less commonly ...
Article

Post ablation syndrome

Post-ablation syndrome occurs from 24 to 48 hours following ablation and lasts no longer than 10 days 1. It is believed to occur following cytokine release and tumor necrosis, causing patient fever and flu-like symptoms. If symptoms persist following 10 days after the procedure, alternate diagn...
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Post-axial polydactyly

Post-axial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th toe. Epidemiology Post-axial polydactyly is more common than pre-axial polydactyly, with an estimated incidence of 1 in 3000 5. Pathology The majority of cases ar...
Article

Post-embolization syndrome

Post-embolization syndrome (PES) is one of the most common side effects of transarterial embolization and chemoembolization. It comprises of a constellation of fever, nausea/vomiting, and pain. It is often a self-limiting phenomenon and usually occurs within the first 72 hours after embolization...
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Posterior choroidal artery stroke

Posterior choroidal artery occlusion uncommonly presents as an isolated stroke syndrome.  It usually coexists with posterior cerebral artery and often superior cerebellar artery involvement.  When seen in isolation damage is characteristically limited to the: lateral geniculate body pulvinar ...
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Posterior reversible encephalopathy syndrome

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state that occurs secondary to the inability of the posterior circulation to autoregulate in response to acute changes in blood pressure. Hyperperfusion with resultant disruption of the blood brain barrier results in vasogenic e...
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Posterior semicircular canal dehiscence syndrome

Posterior semicircular canal dehiscence syndrome (PSCD) is the presence of vestibuloauditory symptoms secondary to absence of the bony covering of the posterior semicircular canal (PSC). Epidemiology It is thought to be rare: in a case series of 112 patients with a high riding jugular bulb it ...
Article

Posterior spinal artery syndrome

Posterior spinal artery syndrome is a rare syndrome associated occlusion of the posterior spinal artery and results in a unilateral dorsal cord syndrome (since the posterior arteries are paired) 3.  The syndrome is clinically characterized by isolated loss of proprioception and vibratory sensat...
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Post-pneumonectomy syndrome

Post-pneumonectomy syndrome is delayed complication of pneumonectomy characterized by respiratory compromise caused by severe mediastinal shift and counterclockwise rotation of the heart and great vessels. Epidemiology Rare delayed complication of pneumonectomy, which more commonly involves th...
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Post-thrombotic syndrome

Post-thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension. Epidemiology PTS is a common complication following extensive DVT of the limbs. Up to...
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PPP syndrome

PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis. Epidemiology Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.  Clinical presentation In the majority of cases, abdominal symptoms are mild or absent, makin...
Article

Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder. It is the most common cause of obesity caused by a genetic syndrome. Clinical presentation Prader-Willi syndrome is primarily characterized by: neonatal hypotonia sexual infancy: hypogonadism obesity morbid obesity resulting from hyperphagi...
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Pre-axial polydactyly

Pre-axial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially). Epidemiology Pre-axial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000. Pathology Associations Pre...
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Primary progressive aphasia

Primary progressive aphasia was first described in 1982 and is the umbrella term for the language-variant frontotemporal dementias associated with frontotemporal lobar degeneration (FTLD) 3. Clinical presentation It is an insidious disorder characterized by gradual impairment of speech and lan...
Article

Progeria

Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS). Radiographic features Although the primary clinical manifestations of progeria include short stature and skin changes, the disease is...
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Progressive postnatal pansynostosis

Progressive postnatal pansynostosis (PPP) is a rare form of craniosynostosis characterized by the late fusion of all cranial sutures. Epidemiology This type of craniosynostosis occurs insidiously after birth and presents later in life unlike other types of craniosynostosis which occur during t...
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Pronator teres syndrome

Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. Signs and symptoms result from compression of the median nerve in the upper f...
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular ...
Article

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a systemic condition characterized by the degeneration of elastic fibers. It has multiorgan manifestations. Epidemiology Its prevalence is estimated to be around 1 in 25,000 9.  Clinical presentation Patients may ...
Article

PTEN-related disease

PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include: Bannayan-Riley-Ruvalcaba COLD syndrome Cowden syndrome Lhermitte-Duclos disease Those not f...
Article

Pulled elbow syndrome

Pulled elbow (also known as nursemaid's elbow) is a subluxation of the radial head into the annular ligament, which usually spontaneously or easily reduces and rarely demonstrates abnormal radiographic features. It should be distinguished from dislocation of the radial head.  Epidemiology Pull...
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Quadrangular space syndrome

Quadrangular space syndrome also known as quadrilateral space syndrome is an uncommon diagnosis mainly because of lack of literature on the subject and possible misdiagnosis. Epidemiology Quadrangular space syndrome is present on ~1% of shoulder MRIs 6.  Clinical presentation Patients presen...
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Radial tunnel syndrome

Radial tunnel syndrome is an entity that refers to entrapment of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5. Clinical presentation The syndrome is characterized by pain along...
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Radiologically isolated syndrome

Radiologically isolated syndrome (RIS) is defined by MRI findings suggestive of multiple sclerosis (MS) in asymptomatic ("clinically silent") patients. Radiological progression usually occurs in approximately 66% of patients with RIS, while ~33% per 5-year-period will subsequently develop neurol...
Article

Raghib syndrome

Raghib syndrome is a rare developmental complex. It consists of: persistence of the left superior vena cava coronary sinus ostial atresia atrial septal defect It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...
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Raine syndrome

Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications.  Many individuals with this disorder are stillborn or die as neonates 4. ...
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Ramsay Hunt syndrome

Ramsay Hunt syndrome (RMS), also known as herpes zoster oticus, is shingles of the facial nerve. It is due to reactivation of the varicella zoster virus in the geniculate ganglion. Clinical presentation Ramsay Hunt syndrome classically presents with a triad of 3,4: otic pain facial nerve pal...
Article

RAPADILINO syndrome

RAPADILINO syndrome is a rare autosomal-recessive syndrome that results from mutations in the RECQL4 gene 1. Epidemiology RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations 2. Pathology The acronym RAPADI...
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Raymond syndrome

Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature. Clinical presentation Clinically, 2 subtypes have been reported 1: classic type abducens ne...
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Raynaud phenomenon

Raynaud phenomenon (also known as Raynaud syndrome) describes a localized vasculopathy whereby there is an exaggerated vascular response to cold temperature or emotional stresses. Terminology Raynaud phenomenon is classified as being either 'primary' or idiopathic, or 'secondary' to another un...
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Reactive arthritis

Reactive arthritis (ReA) is a sterile inflammatory arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy. Terminology Reactive arthritis was formerly known as Reiter syndrome/disease, which is the...
Article

Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...
Article

Rett syndrome

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation1. Clinical presentation Following a period of normal developm...
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Rhupus syndrome

Rhupus syndrome is a term traditionally used to describe patients uncommonly having the coexistence of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA)
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Rieger anomaly

The Rieger anomaly refers to the maldevelopment of the anterior chamber of the ocular globe. The iris and cornea do not form correctly, findings including: hypoplastic iris stroma corectopia: an off-center pupil in the iris colobomas of the iris (pseudopolycoria) Patients are at increased ri...
Article

Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion. It is usually with associated bronchiectasis.  Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). I...
Article

Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects. Clinical presentation craniofacial cleft palate ocular coloboma prominent occiput lo...
Article

Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth retardation failure to thrive thrombocytope...
Article

Robinow-Sorauf syndrome

Robinow-Sorauf syndrome (RSS) is a rare, autosomal dominant type of acrocephalosyndactyly syndrome (ACS). Rather than being a distinct ACS, it has now generally accepted that RSS is, in fact, part of the Saethre-Chotzen syndrome phenotypic spectrum 1. This is due to similar phenotype and both b...
Article

Robinow syndrome

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms. Clinical spectrum The syndrome can affect several systems, including: mesomelic limb shortening: mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal bossin...
Article

Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at pre...
Article

Rotational vertebral artery occlusion syndrome

Rotational vertebral artery occlusion syndrome, also known as bow hunter's syndrome, is a rare form of vertebrobasilar insufficiency secondary to dynamic compression of the usually-dominant vertebral artery.  Pathology It has many predisposing etiologies, but is most often due to large osteoph...
Article

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features. Clinical presentation It is characterized by many features which include: poikiloderma: characteristic rash, typically develops in infancy sparse hair, eyelashes, and/or ey...
Article

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...
Article

Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome characterized by: intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: pseudohydrocephalus clinodactyly/clinobrachydactyly of the small finger a typical triangular type fa...
Article

Ruvalcaba syndrome

Ruvalcaba syndrome (also known as Ruvalcaba-Myhre-Smith syndrome) is one of a group of disorders related to the congenital skeletal disturbance. It is characterized by: macrocephaly hypoplastic genitalia intellectual (not invariably) and physical disability short stature peculiar facies mi...
Article

SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies. Pathology Genetics The syndrome results from a mutation in ...
Article

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities. Epidemiology It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals. Males and females are equally affected. Clinical presentation The spe...
Article

Sakati-Nyhan syndrome

The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly. Its main features include: craniofacial defects congenital limb abnormalities congenital heart defects History and etymology It w...
Article

Sampson syndrome

Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments. Clinical presentation The patient may present with non-specific abdominal pain. Radiographic features At laparoscopy, they are typi...
Article

SAPHO syndrome

The SAPHO syndrome is an acronym that refers to a rare condition that is manifested by a combined occurrence of 2 S: synovitis A: acne P: pustulosis H: hyperostosis O: osteitis Epidemiology It classically tends to present in young to middle-aged adults. Presentation in the pediatric popu...
Article

Schimmelpenning syndrome

Schimmelpenning syndrome is a rare and variable congenital multisystem condition characterized by extensive linear sebaceous nevi and multisystem neuroectodermal abnormalities. It is an epidermal nevus syndrome (ENS). Clinical presentation Classical triad including sebaceous nevi, seizures, an...
Article

Schindler disease

Schindler disease is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). Epidemiology It is a rare disease with autosomal recessive inheritance. Clinical presentation Age and severity of presentation depends ...
Article

Sclerosteosis

Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1. Epidemiology Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...

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