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Carpenter syndrome

Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder. Clinical spectrum It is characterized by a number of features which include: craniofacial malformations craniosynostoses kleeblattschädel (cloverlea...

Radial tunnel syndrome

Radial tunnel syndrome is an entity that refers to entrapment (tunnel syndrome) 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. Epidemiology There may be a female predilection...

Bálint syndrome

Bálint syndrome is characterized by: simultanagnosia (inability to perceive more than one object at a time) optic ataxia (poor visual-motor coordination) oculomotor apraxia (loss of voluntary but not reflex eye movements) Pathology It typically results from damage to the parieto-occipital r...

Shy-Drager syndrome

The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA). Terminology It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifes...

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 jejunum), but also colon and stomach; mouth and esophagus are spared mucocut...

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL or <2.7 mmol/L) symptoms of hypoglycemia immediate relief of symptoms after the administration of intravenous glucose History and etymology The triad and also the Whipple pro...

Waterhouse-Friderichsen syndrome

Waterhouse-Friderichsen syndrome, also known as purpura fulminans 9 or hemorrhagic adrenalitis 10, is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia. Pathology Waterhouse-Friderichsen syndrome is due to septicemia and common...

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 slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involve...

Carpal tunnel syndrome

Carpal tunnel syndrome results from compression of the median nerve (tunnel syndrome) within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndro...

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance. Epidemiology Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...

Opsomyoclonus

Opsomyoclonus (OMS), also known as dancing eyes-dancing feet syndrome and opsoclonus-myoclonus syndrome, is a clinical syndrome which has a strong association with neuroblastoma. Clinical presentation The “opso-“ refers to the presence of intermittent jerky eye movements (dancing eyes) and the...

HELLP syndrome

HELLP syndrome is a pregnancy-related condition and is an abbreviation for: haemolysis elevated liver enzymes and low platelets It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia. Epidemiology The estimated inciden...

Goodpasture syndrome

Goodpasture syndrome, also referred as antiglomerular basement membrane (anti-GBM) antibody disease, is an autoimmune disease characterized by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is a type of pulmonary-renal syndrome. Goodpasture syndrome i...

Hughes-Stovin syndrome

Hughes-Stovin syndrome (HSS) is a vasculitis that predominantly affects large vessels. The disease bears some resemblance to Behçet disease. Epidemiology Hughes-Stovin syndrome is very rare 7. It occurs predominantly between the 2nd to 4th decades. There is a recognized male predilection. Cl...

Seckel syndrome

Seckel syndrome is an autosomal recessive congenital dwarfing disorder. Epidemiology The estimated incidence is ~1:10,000. There is no recognized gender predilection. Clinical presentation It is clinically characterized by many features including: intrauterine growth restriction postnatal ...

Congenital syndromes associated with enlarged ventricles

Congenital ventriculomegaly can have a large number of syndromic associations. Common acrocephalosyndactylies Apert syndrome Pfeiffer syndrome acrocephalopolysyndactylies Crouzon syndrome achondroplasia fetal alcohol syndrome lissencephaly osteopetrosis Sotos syndrome X-linked hyd...

Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability rena...

Acute aortic syndrome

Acute aortic syndrome describes the presentation of patients with one of a number of life-threatening aortic pathologies that give rise to similar clinical presentations. Exactly which entities are included under the umbrella term acute aortic syndrome varies somewhat from publication to public...

Goldenhar syndrome

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at 1 in 3000-5000...

Neu-Laxova syndrome

Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype. Clinical presentation The clinical spectrum can be quite wide and includes: dermal / cutaneous severe skin restriction ichthyosis decreased fetal movement marked intrauterine...

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease). Epidemiology The combined prevalence for all types of Ehlers-Danlos syndrome is estimated to be at least 1 of every 5000 individuals. There is no significant gender predominance...

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency, is an inborn error of cholesterol synthesis. Epidemiology The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries. Associations Hirschsprung disease C...

Superior semicircular canal dehiscence syndrome

Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC). Notably, this CT finding has also been described in ~10% of individuals w...

Acute motor axonal neuropathy

Acute motor axonal neuropathy (AMAN) is characterized as progressive symmetrical flaccid paralysis with areflexia. It is a pure motor axonopathy and is a variant of Guillain-Barré syndrome. Terminology In 1991, a short-lived epidemic of Guillain-Barré syndrome (GBS) was seen in Northern China....

Sulcal artery syndrome

Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...

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...

Allgrove syndrome

Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings: achalasia alacrima ACTH insensitivity

Asherman syndrome

Asherman syndrome, also known as uterine synechiae, is a condition characterized by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility. Epidemiology There is a tendency for the condition to develop soon af...

Leprosy

Leprosy, previously known as Hansen's disease, is a chronic infectious disease caused by Mycobacterium leprae and presents mainly in tropical developing countries. Epidemiology It is most common in tropical developing countries and is endemic in over 100 countries. Worldwide, there is a preval...

Campomelic dwarfism

Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia. Epidemiology Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births. Associations genital malformations: may be present in ~66% of patients 6 Clinical presentation Diagnos...

Lateral medullary syndrome

Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by an acute ischemic infarct of the lateral medulla oblongata. This is most commonly due to occlusion of the intracranial portion of the vertebral artery followed by PICA and its branches 1-3. Epidemio...

Madelung disease

Madelung disease, also known as Madelung-Launois-Bensaude syndrome or neck lipomatosis or multiple symmetric lipomatosis, is a rare benign entity clinically characterized by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper ...

Hepatopulmonary syndrome

Hepatopulmonary syndrome (HPS) is a clinical syndrome defined by the presence of the following: liver disease dilation of pulmonary vasculature may involve pulmonary capillaries, pulmonary arteriovenous malformations (AVMs), or pleural arteriovenous malformations abnormalities in oxygenation...

Superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, cast syndrome or aortomesenteric duodenal compression syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of...

Fat embolism syndrome

Fat embolism syndrome (FES) is an uncommon clinical manifestation of a minority of individuals who have fat emboli. It is the result of innumerable small fat emboli leading to a multisystem dysfunction, classically characterized by the triad of: respiratory distress cerebral abnormalities pet...

Noonan syndrome

Noonan syndrome (NS) is a genetically and phenotypically heterogeneous non-aneuploidic congenital RASopathy. Affected individuals can bear some clinical features similar to that of Turner syndrome. Epidemiology The estimated incidence is at ~1 in 1000-2500 10. As individuals have normal numbe...

Alport syndrome

Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions. Clinical presentation hematuria sensorineural hearing loss: typically high frequency 2 ocular abnormalities anterior lenticonus: most common ...

Terson syndrome

Terson syndrome refers to vitreous hemorrhage associated with subarachnoid hemorrhage, however, some authors include retinal hemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid hemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-50% ...

Camurati-Engelmann disease

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course. Clinical presentation Common symptoms include extremity pain, muscle weakness, cranial nerve impairment a...

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: preaxial polydactyly: extra digit(s) towards the thumb/hallux (radially) postaxial polydactyly: extra digit(s)...

Amniotic band syndrome

Amniotic band syndrome (ABS) comprises a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit. Epidemiology The phenomenon ...

Medial tibial stress syndrome

Medial tibial stress syndrome (MTSS), also known as shin splints, describes a spectrum of exercise-induced stress injury that occurs at the medial tibial mid-to-distal shaft. This term is often incorrectly used to indicate any type of tibial stress injury but more correctly refers to the earlier...

Posterior ankle impingement syndrome

Posterior ankle impingement (PAI) syndrome is one of the impingement syndromes involving the ankle. Epidemiology It is usually a unilateral phenomenon. Bilateral posterior ankle impingement syndrome has been described but is rare 5. It is classically described in ballet dancers. Clinical pres...

SMART syndrome

SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy, is an uncommon delayed complication of cerebral radiation therapy. It is probably a more severe manifestation of peri-ictal pseudoprogression (PIPG). Epidemiology SMART syndrome is encountered in individuals ...

Susac syndrome

Susac syndrome, also known as retinocochleocerebral vasculopathy or SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-aged women that is clinically characterized by the triad of acute or subacute encephalopathy,...

Moyamoya syndrome

Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease. These conditions include 1-4 : vessel wall abnormalities ...

Grisel syndrome

Grisel syndrome is a rare cause of torticollis that involves subluxation of atlanto-axial joint from inflammatory ligamentous laxity following an infectious process in the head and neck, usually a retropharyngeal abscess. Epidemiology It usually occurs in infants or young children. Clinical p...

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...

Felty syndrome

Felty syndrome is a rare autoimmune disorder that is associated with a triad of rheumatoid arthritis, splenomegaly, and neutropenia. Epidemiology It is thought to occur in ~ 1% of patients with rheumatoid arthritis 2. It is more common in women, and it is most commonly diagnosed in people abov...

Langer-Giedion syndrome

Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder. Pathology The effects are seen mainly on the skeletal system and primarily involves hair: "tricho-" nose: "rhino-" digits of the hands and feet: "-phalang...

Marine-Lenhart syndrome

Marine-Lenhart syndrome refers to a variant of Graves disease where there are coexistent autonomous thyroid nodules. It is better described as Graves disease with coexistent multinodular goiter or nodular Graves disease 1. Epidemiology The syndrome is rare with reported prevalence somewhere b...

Morquio syndrome

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Cl...

Cogan syndrome

Cogan syndrome is a rare vasculitis of young adults that is primarily characterized by 1,4,6: inflammatory eye disease (classically interstitial keratitis) 6 audiovestibular dysfunction (similar to Meniere disease) 6 Epidemiology Cogan syndrome is rare and can occur in people of any age and ...

Ataxia-telangiectasia syndrome

Ataxia-telangiectasia syndrome is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency. On brain imaging, it usually de...

Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...

Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. Epidemiology The estimated incidence is 1 case per 65-80,000 pregnancies. Risk factors increased paternal age has been proposed 6 Associations CNS ...

Iliotibial band syndrome

Iliotibial band (friction) syndrome is a common cause of lateral knee pain related to intense physical activity resulting in chronic inflammation of the fat adjacent to the iliotibial band (ITB). Alternatively, the same pathology can occur over the greater trochanter and is considered the same d...

Cronkhite-Canada syndrome

Cronkhite-Canada syndrome is a type of non-neoplastic, non-hereditary hamartomatous polyposis syndrome characterized by rash, alopecia, and watery diarrhea. Epidemiology There is a recognized male predilection (M:F 3:2). Patients typically are middle-aged (50-60 years of age) 1. 75% of the ~50...

Hamatolunate impingement syndrome

Hamatolunate impingement is an uncommon cause of ulnar-sided wrist pain. The condition occurs most commonly in wrists where there is type II lunate morphology (existence of a medial facet on the distal lunate for articulation with the hamate). Repeated impaction of the opposing articular surface...

Ulnar styloid impaction syndrome

Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone. Pathology An ulnar styloid >6 mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal...

Ulnar impaction syndrome

Ulnar impaction syndrome, also known as ulnar abutment or ulnocarpal impaction or loading, is a painful degenerative wrist condition caused by the ulnar head impacting upon the ulnar-sided carpus with the injury to the triangular fibrocartilage complex (TFCC). Differentiation from ulnar impinge...

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses. Epidemiology The incidence is estimated at ~1:1,000,000 3. There is a recognized male predilection (M:F = 3:1...

Williams-Campbell syndrome

Williams-Campbell syndrome (WCS) is a rare form of congenital cystic bronchiectasis, in which distal bronchial cartilage is defective. Clinical presentation Williams-Campbell syndrome may present with recurrent pneumonia, wheezing, barrel-chest deformity, and Harrison sulcus 8. Pathology It ...

Eosinophilic granulomatosis with polyangiitis

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a small-vessel necrotizing vasculitis usually involving the respiratory tract, and thus also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and gr...

Alagille syndrome

Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder. Clinical presentation Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis. Genetics Alagille syndrome is inhe...

Vernet syndrome

Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a glomus jugulare tumor, schwannoma, or metastasis 2. Clinical presentation It consists of motor paralysis of: glossopharyngeal nerve ...

Collet-Sicard syndrome

Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesions at the jugular foramen 1,2. Clinical presentation Vernet syndrome, consisting of motor paralysis of glossopharyngeal nerve (CN IX) vagus ne...

Hereditary renal cancer syndromes

Despite the vast majority of renal cancers being sporadic, there are a number of hereditary renal cancer syndromes: von Hippel Lindau syndrome: predominantly clear cell type tuberous sclerosis: predominantly clear cell type (also associated with angiomyolipoma) hereditary paraganglioma-pheoch...

Plummer-Vinson syndrome

Plummer-Vinson syndrome, also known as the Paterson-Brown Kelly syndrome, is a very rare condition which comprises a classic triad of dysphagia, iron-deficiency anemia and upper esophageal webs. Epidemiology The incidence of Plummer-Vinson syndrome has plummeted in the past fifty years and thi...

Caudal regression syndrome

Caudal regression syndrome represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The vast m...

Zellweger syndrome

Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys. Epidemiology The condition typically presents in neonates with poor feeding and/or seizures. ...

Silent sinus syndrome

The silent sinus syndrome represents maxillary sinus atelectasis that results in painless enophthalmos, hypoglobus and facial asymmetry 1-3. Some authors restrict the term to patients with no history of sinusitis, trauma or surgery 2. Some authors suggest that is part of the spectrum of chronic ...

Bile sump syndrome

Bile sump syndrome refers to a complication following a side-to-side choledochoduodenostomy. Epidemiology This complication occurs in ~1% of patients following a side-to-side choledochoduodenostomy. Clinical presentation Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr...

Popliteal artery entrapment syndrome

Popliteal artery entrapment syndrome 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 or less commonly with popliteu...

Lady Windermere syndrome

Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...

Löfgren syndrome

Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis that usually manifests with lymphadenopathy, fevers, erythema nodosum, and polyarticular arthritis. Terminology It is important to not confuse this syndrome with Löffler syndrome, as the names are quite similar...

Lutembacher syndrome

Lutembacher syndrome refers to the association of an atrial septal defect (ASD) with mitral stenosis. Both the defects can be either congenital or acquired. History and etymology It is named after Rene Lutembacher 4.

Mikulicz syndrome

Mikulicz syndrome was at one time considered to be a form of Sjögren syndrome (type 1), however, it is now considered to be on the IgG4-related disease spectrum. Terminology Mikulicz syndrome may also be referred to by numerous other eponyms as well as the rather verbose "sicca syndrome witho...

Williams syndrome

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate intellectual disability supravalvular aortic stenosis ...

Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease. Epidemiology The estimated prevalence is aro...

Young syndrome

Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...

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

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...

POEMS syndrome

POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder including the following features: P: polyneuropathy O: organomegaly E: endocrinopathy M: monoclonal gammopathy S: skin changes Clinical presentation The diagnostic criteria differ from the acronym. Accordi...

Enlarged vestibular aqueduct

Enlarged vestibular aqueduct, also known as large vestibular aqueduct or large endolymphatic duct and sac syndrome or anomaly, is the most common inner ear malformation associated with sensorineural hearing loss. Clinical presentation The syndrome manifests as sensorineural or mixed hearing lo...

Colonic pseudo-obstruction

Colonic pseudo-obstruction (also known as Ogilvie syndrome) is a potentially fatal condition leading to an acute colonic distention without an underlying mechanical obstruction. It is defined as an acute pseudo-obstruction and dilatation of the colon in the absence of any mechanical obstruction....

Zuelzer-Wilson syndrome

Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic. Epidemiology It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...

SAPHO syndrome

The SAPHO syndrome is an acronym that refers to a rare syndrome 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 popul...

Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...

Hutchinson syndrome

Hutchinson syndrome is a seldom-used term to denote a syndromic presentation of children with bone metastases from neuroblastoma. Terminology Unfortunately, there is a lack of consensus in the definition with two descriptions most commonly encountered in the literature: limping and irritabili...

18q deletion syndrome

18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...

Currarino syndrome

The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6. anorectal malformation or ...

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