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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...

VATER

VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies. V: vertebral anomalies A: anal atresia TE: tracheo-oesophageal fistulas R: radial ray hypoplasia, polydactyly, and renal agenesis Epidemiology The prevalence of at least 3/5 anomalies occur...

Meckel-Gruber syndrome

Meckel-Gruber syndrome (MGS) is classically characterized by the triad of: renal cystic dysplasia: multiple renal cysts (present in most cases) occipital encephalocele / holoprosencephaly (~70%) postaxial polydactyly: usually hexadactyly (~65%) Additional hepatic developmental defects and he...

COACH syndrome

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...

Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID). Epidemiology The preva...

Phakomatoses

The phakomatoses are a group of neurocutaneous disorders characterized by the involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin, and eyes). Other organs may also be involved. Terminology For practical purposes, the terms "phakomatoses" and "neu...

Sturge-Weber syndrome

Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS). The key features of Sturge-Weber...

Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor male pseudohermaphroditism progressive glomerulonephritis

Morning glory syndrome (eye)

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...

Werner syndrome

Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome. Pathology Werner syndrome is characterized by premature senescence cataracts short stature scleroderma-like skin changes such ...

Mirizzi syndrome

Mirizzi syndrome refers to an uncommon phenomenon that results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other hepat...

WAGR syndrome

The WAGR syndrome or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.

Klippel-Feil syndrome

Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis. Epidemiology There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...

Klippel-Trénaunay-Weber syndrome

Klippel-Trénaunay-Weber syndrome (KTWS) is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo-hypertrophic syndrome. Terminology The name Klippel-Trénaunay-Weber syndr...

Meconium plug syndrome

Meconium plug syndrome refers to a functional colonic obstruction in a newborn due to an obstructing meconium plug. It is usually transient and affects the left colon with meconium plugging the bowel distal to this segment. In this situation, it is also termed the small left colon syndrome. Pat...

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori or Forbes disease type IV: Andersen di...

Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor, and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar underlying...

Horner syndrome

Horner syndrome classically presents as an ipsilateral enophthalmos, blepharoptosis, pupillary miosis and facial anhydrosis due to disruption at some point of the oculosympathetic pathway. Ptosis is due to interruption of the sympathetic motor innervation of the superior tarsal muscle which is ...

Heterotaxy syndrome

Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left-right distribution of the thoracic and abdominal organs that does not entirely correspond to the complete mirror image (situs inversus). It occurs...

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS), recently reclassified as Beckwith-Wiedemann spectrum, is a congenital overgrowth disorder characterized by a unique set of features that can consist of: macroglossia: most common clinical finding 4 ear pits or creases omphalocele localized gigantism / macro...

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...

Holt-Oram syndrome

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies: congenital heart defects atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctation upper limb...

Sickle cell disease (acute chest syndrome)

Acute chest syndrome in sickle cell disease is a leading thoracic complication - as well as leading cause of mortality - in those affected by sickle cell disease. The diagnosis is made on the combination of new pulmonary opacities on chest radiograph with at least one new clinical symptom or sig...

Menkes disease

Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes. Epidemiology Menk...

Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) (also known as Beals syndrome) is a rare connective tissue disorder that bears phenotypic similarities to Marfan syndrome, but is genetically distinct. Affected individuals have arachnodactyly, muscle contractures and ear anomalies, but without any oc...

Thanatophoric dysplasia

Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II. Epidemiology The estimated incidence is around 1:25,000-50,000 3. Associations polyhydramnios 4 Pathology Subtypes There are two recognized...

Eosinophilia myalgia syndrome

Eosinophilia myalgia syndrome (EMS) is a fatal neurological condition caused by ingestion of improperly manufactured L-tryptophan. Impurities and/or metabolites that block histamine degradation result in peripheral blood eosinophilia and myalgia. In the brain, cortical and basal ganglia atroph...

Fahr syndrome

Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy. It can be either primary (usually autosomal dominant) or se...

Dyke-Davidoff-Masson syndrome

Dyke-Davidoff-Masson syndrome is a condition characterized by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. It is characterized by: thickenin...

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 mutation 1. Clinical presentation Following a period of normal develop...

Multiple system atrophy

Multiple system atrophy (MSA) is a sporadic neurodegenerative disease (one of the synucleinopathies) characterized by varying degrees of cerebellar ataxia, autonomic dysfunction, parkinsonism, and corticospinal dysfunction. Epidemiology Multiple systemic atrophy is a sporadic disease, with a ...

Marchiafava-Bignami disease

Marchiafava-Bignami disease (MBD) is a rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves necrosis and demyelination of the corpus callosum. Epidemiology Marchiafava-Bignami disease is in most instances seen in chronic alcoholics, ...

Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Recent genetic work has linked this syndrome to bot...

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 ...

Löffler syndrome

Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood. Pathology Etiology The cause is not usually i...

Bruns syndrome

Bruns syndrome occurs in patients with an obstructing intraventricular mass and consists of abrupt paroxysms of: severe headache vertigo vomiting The symptoms are characteristically exacerbated with sudden movements of the head. Pathology There are two main theories as to the pathogenesis ...

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...

Non-steroidal anti-inflammatory drug exacerbated respiratory disease

Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2: hypersensitivity to aspirin (and other NSAIDs) nasal polyposis / rhinosinusitis asthma Terminology Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...

Bouveret syndrome

Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus. Clinical presentation Bouveret syndrome occurs most commonly in elderly women. The presenting...

Kartagener syndrome

Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance. Epidemiology The prevalence of primary ciliary dyski...

Sjögren syndrome

Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva. Epidemiology Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ~9:1. Patie...

Bogorad syndrome

Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. This phenomenon is also known as paroxysmal lacrimation or the gustolachrymal reflex. It is caused by a misdirection of the regenerating autonomic...

Enchondromatosis

Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromato...

Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome consists of the triad of: hyperostosis frontalis interna obesity excessive hair growth (virilism/hirsutism) and is also associated with neuropsychiatric conditions. The cause is unclear. History and etymology It was first described in 1765 by the Italian ...

Syndrome of the trigone

Syndrome of the trigone occurs when intracranial tumors that arise in the trigone of the lateral ventricle present with a distinctive constellation of signs and symptoms due to compression of the posterior limb of the internal capsule and the adjacent white matter of the parietal and posterior f...

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 pres...

Leontiasis ossea

Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...

Mazabraud syndrome

Mazabraud syndrome is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas 1-3. Epidemiology Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. T...

McCune-Albright syndrome

McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the association of: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine 'café au lai...

Familial multiple cavernous malformation syndrome

The familial multiple cavernous malformation syndrome, or familial cerebral cavernous malformation syndrome, is uncommon, accounting for only a minority of cavernous malformations. Epidemiology It has been more frequently reported in patients of Hispanic descent 1. Diagnosis The definition o...

Parinaud syndrome

Parinaud syndrome, also known as 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 diplopia ...

Chilaiditi syndrome

Chilaiditi syndrome is the anterior interposition of the colon to the liver reaching the under-surface of the right hemidiaphragm with associated upper abdominal pain; it is one of the causes of pseudopneumoperitoneum. Colonic gas in this position may be misinterpreted as true pneumoperitoneum ...

Eisenmenger syndrome

The Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal. Epidemiology In general, the shunts that lead to Eisenmenger syndrome share high pressure and high flow 3. As su...

Shone syndrome

Shone syndrome, also known as Shone complex, is a rare syndrome characterized by left-sided, obstructive congenital heart defects. Epidemiology Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1. Clinical presentation Patients, usually ne...

Top of the basilar syndrome

Top of the basilar syndrome, also known as rostral brainstem infarction, occurs when there is thromboembolic occlusion of the top of the basilar artery. This results in bilateral thalamic ischemia due to occlusion of perforator vessels. Clinical presentation Clinically, top of the basilar synd...

Treacher Collins syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of first and second branchial arches (see branchial apparatus). Epidemiology The incidence is estimated at approximately 1 in 50,000 live b...

Lacunar stroke syndrome

Lacunar stroke syndrome is a description of the clinical syndrome that results from a lacunar infarct. Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressively, or in a fluctuating manner (e.g. the capsular warning syndr...

Kallmann syndrome

Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, a similar syndrome is referred to as normosmic idiopathic hypogonadotropic hypogonadism. Epidemiology It is a rare disorder with an estimate...

Wolman disease

Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs. This presents on imaging by hepatosplenomegaly and enlarged calcified adrenals. Clinical presentation Patients with Wolman disease typically present during the first ...

Mucopolysaccharidoses

Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...

Ovarian hyperstimulation syndrome

Ovarian hyperstimulation syndrome (OHSS) is a complication of controlled ovarian stimulation, which is an assisted reproduction technique used for in vitro fertilisation (IVF). Rarely, it may also occur spontaneously in pregnancy (see below). It consists of ovarian enlargement with an extravascu...

Caffey disease

Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...

Wernicke encephalopathy

Wernicke encephalopathy, also known as Wernicke-Korsakoff syndrome, or alcoholic encephalopathy, if trying to avoid eponyms, is a form of thiamine (vitamin B1) deficiency and is typically seen in alcoholics. On imaging, it is commonly seen on MRI as areas of symmetrical increased T2/FLAIR signa...

Bartter syndrome

Bartter syndrome is a rare inherited renal disorder. Pathology Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension/normotension elevated plasma renin elevated aldosterone antenatal polyhydramnios Classific...

Adie syndrome

Adie syndrome, also known as Holmes-Adie syndrome, is a rare neurological disorder. Epidemiology Adie syndrome is a rare condition that is most commonly seen in young females in their fourth decade of life 2,3. Clinical presentation Patients most commonly present with a classic triad of: di...

Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases). Terminology Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named ...

Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality. Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome. Epidemiology It occurs more frequently in females (with a M:F of ~4:1). Clinical presentation One of the most typical features is absence o...

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...

Subclavian steal syndrome

Subclavian steal syndrome and subclavian steal phenomenon both result from severe proximal subclavian artery stenosis or occlusion resulting in retrograde flow in the ipsilateral vertebral artery. Terminology Subclavian steal phenomenon refers to steno-occlusive disease of the proximal subclav...

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 ...

Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 : exocrine pancreatic insufficiency metaphyseal chondrodysplasia bone marrow hypoplasia (cyclic neutropenia) Epidemiology Shwachman-Diamond syndrome is a ra...

Twin-to-twin transfusion syndrome

Twin-to-twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic (either MCDA or MCMA) twin pregnancy. Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies, giving an estimated prevalence of ~1:2000 of all pregnanci...

Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess. The Rotterdam criteria is used to make the diagnosis of PCOS and require any two of the following three criteria for the diagnosis, as w...

Dandy-Walker malformation

Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterized by the triad of: hypoplasia of the vermis and cephalad rotation of the vermian remnant cystic dilatation of the fourth ventricle extending posteriorly enlarged posterior fossa with torcular-lambdoi...

Facial colliculus syndrome

Facial colliculus syndrome refers to a constellation of neurological signs due to a lesion at the facial colliculus, involving: abducens nerve (CN VI) nucleus facial nerve (CN VII) fibers at the genu medial longitudinal fasciculus Clinical presentation lower motor neuron facial nerve palsy ...

Gerstmann syndrome

Gerstmann syndrome, also known as angular gyrus syndrome, is a dominant hemisphere stroke syndrome affecting the left parietal lobe in the region of the angular gyrus, consisting of four components: agraphia or dysgraphia acalculia or dyscalculia finger agnosia left-right disorientation Pu...

Primary progressive aphasia

Primary progressive aphasia is a group of neurodegenerative disorders mainly characterized by increasing language impairment. The group is clinically and pathologically heterogeneous and includes two clinical variants usually associated with frontotemporal lobar degeneration pathology and one cl...

May-Thurner syndrome

May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2. Although both left and right CIVs lie deep to the right common iliac artery, the left...

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...

Wyburn-Mason syndrome

Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...

Wildervanck syndrome

Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of: Klippel-Feil syndrome congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness Duane syndrome: an ocular motility disturbance due to fibrosis of the extraocul...

Weber syndrome

Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve 1-3,5. Occasionally the substantia nigra can also be involved 5. Clinical presentation ipsilateral CN III palsy diplopia ptosis afferent pupillary defect ...

Vascular syndromes

The are numerous vascular syndromes that can occur in the body. They include: Syndromes principally involving the vascular system Budd-Chiari syndrome celiac artery compression syndrome hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) hypothenar hammer syndrome Kasabach-M...

VACTERL association

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Associations Several conditions have features in common with...

Turner syndrome

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females. Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with...

Turcot syndrome

Turcot syndrome is a polyposis syndrome. It is characterized by multiple colonic polyps and an increased risk of colon cancer and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology Turcot syndrome is characteriz...

Trotter syndrome

Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of: unilateral conductive hearing loss due to middle ear effusion trigeminal neuralgia due to perineural spread soft palate immobility

Trisomies

The trisomies are chromosomal anomalies which usually occur due to non-disjunction. The vast majority of affected fetuses are spontaneously aborted, often very early during gestation. Only three are compatible with extrauterine life (T13, T18, T21), and only one beyond early infancy (T21). In o...

Thoracic outlet syndrome

Thoracic outlet syndrome refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture 11. Clinical presentation Clinical presentation will depend on the structure compresse...

Straight back syndrome

Straight back syndrome refers to decreased thoracic kyphosis ("flattening") and decreased anteroposterior thoracic diameter, such that there is compression of cardiovascular or bronchial structures. It should not be confused with flat back syndrome, which refers to decreased lumbar lordosis, o...

Stewart-Treves syndrome

Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphedema 1. It was classically attributed to lymphedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in chronically lymphedematous regions of any cause 2. The incidence is ...

Stiff person syndrome

Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease. Epidemiology Onset is usually between 30 and 50 years of age. An association with autoimmune disease and various malignancies is described and these are thought to play a role in the pathophysi...

Snapping hip syndrome

Snapping hip syndrome (also known as coxa saltans or dancer’s hip) refers to a situation where there is an audible snapping sound produced during motion of the hip. Epidemiology Some reports suggest that up to 10% of population may have this to some degree 8. Pathology This condition is cla...

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