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.

406 results found
Article

Cronkhite–Canada syndrome

Cronkhite–Canada syndrome is a type of non-hereditary hamartomatous polyposis syndrome characterised by rash, alopecia, and watery diarrhea. Epidemiology There is a recognised male predilection. Patients typically are middle age, in their 60th 1. Clinical presentation Patients typically pres...
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Crouzon syndrome

Crouzon syndrome is rare disorder characterised by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exopthalmos mid facial hypoplasia bifid uvula Genetics It carries an autosomal dominant ...
Article

Cubital tunnel syndrome

Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy which can occur from a pathological compression of the ulnar nerve at the cubital tunnel. Epidemiology It is the second most common peripheral neuropathy of the upper extremity 1,3. Clinical presentation Ulnar nerve comp...
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Currarino triad

The Currarino triad (not to be confused with Currarino-Silverman syndrome, the eponymous name for pectus carinatum type 2 deformity) or ASP triad, is characterised by: anorectal malformation or congenital anorectal stenosis sacrococcygeal osseous defect presacral mass e.g anterior sacral men...
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Dandy-Walker variant

Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM) and is considered being on the lesser end of the disease spectrum in the Dandy-Walker continuum. Terminology This term was created to include those malformations that do not mee...
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Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed. Clinical presentation Injuries involving the teg...
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Down syndrome

Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multi-system manifestations. Epidemiology According to the world health organisation (WHO), the approximate worldwide inci...
Article

Dravet syndrome

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life. Clinical presentation Patients usually present in first six months to one year of life with tonic-clonic seizures in a febrile ch...
Article

Dressler syndrome

Dressler syndrome (DS) is a delayed immune-mediated or secondary pericarditis developing weeks to months after a myocardial infarction (MI). Terminology Dressler syndrome is not to be confused with pericarditis epistenocardica (which is seen earlier in the post-MI period) and is considered a r...
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Duane radial ray syndrome

Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
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Dyke-Davidoff-Masson syndrome

Dyke-Davidoff-Masson syndrome (DDMS) was initially described as changes in the skull seen on skull x-ray in patients with cerebral hemiatrophy but is now applied more broadly to cross-sectional imaging also. It is characterised by: thickening of the skull vault (compensatory) enlargement of th...
Article

Dysplasia epiphysealis hemimelica

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

Ebola virus disease

Ebola virus disease (EVD) (also known as Ebola haemorrhagic fever (EHF) or simply Ebola) is a viral haemorrhagic disease caused by the Ebola Filovirus. Ebola is an extremely virulent virus with case fatality rates of approximately 70% 1. Epidemiology First recognized in 1967 after polio vaccin...
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Ectrodactyly-ectrodermal dysplasia-clefting syndrome

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of  ectrodactyly  +/- syndactyly 1 +/- polydactyly 5 ectrodermal dysplasia facial clefts: cleft lip and/or palate Pathology Genetics ...
Article

Edwards syndrome

Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy13), make up the only three trisomies to be compatible with extra-uterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.  Epidemiology After Down...
Article

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease). Epidemiology There is a recognised male predominance. Clinical presentation Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
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Elbow synovial fold syndrome

Elbow synovial fold syndrome refers to a condition where patients experience a cluster of symptoms due to the presence of synovial folds (also known as synovial fringe or plicae). Epidemiology It tends to be more common in athletic young adults. It is associated with certain sporting activitie...
Article

Eosinophilic granulomatosis with polyangiitis

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as the Churg-Strauss syndrome (CSS), is a small to medium vessel necrotising pulmonary vasculitis. It is also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and granulomatosis. ...
Article

Epidermal naevus syndrome

Epidermal naevus syndrome (ENS), also know as Solomon's syndrome or Feuerstein and Mims syndrome, represent a group of distinct disorders related to the presence of epidermal nevi and extracutaneous anomalies. It is a syndrome linked to mosaicism, with many of them occurring exclusively sporadic...
Article

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) fibres at the genu medial longitudinal fasciculus Clinical presentation lower motor neuron facial nerve palsy ...
Article

Fahr syndrome

Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterised 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...
Article

Failed back syndrome

Failed back syndrome refers to persistent leg and/or lumbar back pain after a surgical procedure. The pathophysiology of this syndrome is complex, as often the operation was technically successful.  Terminology Other names for failed back syndrome include failed back surgery syndrome, post-lam...
Article

Familial adenomatous polyposis syndrome

Familial adenomatous polyposis syndrome (FAPS) is characterised by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
Article

Familial multiple cavernous malformation syndrome

Familial multiple cavernous malformation syndrome(s) are uncommon, accounting for only a minority of cavernous malformations. Epidemiology It has been more frequently reported in patients of Hispanic descent 1. Clinical presentation The presentation is most commonly with seizures (38-55%) 1 ...
Article

Fatco syndrome

Fatco syndrome is a syndrome consisting of fibular aplasia tibial campomelia and oligosyndactyly. It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Differential diagnosis Fuhrmann syndrome and Al-Awadi syndrome are said to be similar to FA...
Article

Fetal head sparing theory

The fetal head sparing theory is one that underpins asymmetrical intra-uterine growth restriction, where the difference between normal head circumference and decreased abdominal circumference is attributed to the fetus's ability to preferentially supply the cerebral, coronary, adrenal and spleni...
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Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS) refers to the development of a perihepatitis in association with pelvic inflammatory disease (PID).  Epidemiology The prevalence in adults with mild to moderate PID (gonorrhoic) may approximate 4% 10. The prevalence may be higher in genital tuberculosis 12. It ...
Article

Focal dermal hypoplasia syndrome

Focal dermal hypoplasia syndrome is also known as Goltz syndrome, and is named confusingly similar to Gorlin-Goltz syndrome. Epidemology A rare disorder that follows X-linked dominant inheritance pattern. More commonly seen in males than female. Worldwide only 200-300 cases have been reported....
Article

Foster Kennedy syndrome

Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilloedema caused by an ipsilateral compressive mass lesion. Clinical presentation The syndrome consists of two cardinal features: ipsilateral optic nerve atrophy presenting with central s...
Article

Fraser syndrome

Fraser syndrome is an extremely rare congenital syndromic anomaly.  Epidemiology The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths. Clinical spectrum The syndromic spectrum can comprises of: cryptophthalmos syndactyly: often cutaneous tracheal atr...
Article

Freeman Sheldon syndrome

Freeman Sheldon syndrome (FSS) (also known as distal arthrogryposis type IIa) is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is als...
Article

Gerstmann-Straussler-Scheinker disease

Gerstmann-Straussler-Scheinker disease is a very rare type of human transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern. 
Article

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterised 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...
Article

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 characterised by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at  1 in 3000-500...
Article

Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.  History and etymology It is named after Manuel ...
Article

Goodman syndrome

Goodman syndrome is a type of acrocephalopolysyndactyly (often considered type IV). It is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal re...
Article

Goodpasture syndrome

Goodpasture syndrome (or antiglomerular basement membrane (anti-GBM) antibody disease) is an autoimmune disease characterised by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is type of pulmonary renal syndrome. Goodpasture syndrome is defined by: p...
Article

Good syndrome

Good syndrome is a rare paraneoplastic syndrome in which a thymoma causes hypogammaglobulinemia and humoral immunodeficiency. It has been estimated to occur in 0.2%–2% of thymomas 2. thymoma low to absent B-cells T-cell mediated defects CD4 T-cell lymphopenia inverted CD4/CD8+ T-cell ratio ...
Article

Gradenigo syndrome

Gradenigo syndrome consists of the triad of: petrous apicitis abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary divisions of the trigeminal nerve, due to extensi...
Article

Granulomatosis with polyangiitis (CNS manifestations)

CNS manifestations of granulomatosis with polyangiitis (GPA) (previously known as Wegener's granulomatosis) are rare. Granulomatosis with polyangiitis (Wegener granulomatosis), is a multi-system systemic necrotizing non-caseating granulomatous vasculitis affecting small to medium-sized arteries,...
Article

Greig cephalopolysyndactyly syndrome

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare a pleiotropic, multiple congenital anomaly syndrome.  It is primarily characterized by: polydactyly-polysyndactyly: pre-axial polydactyly (most common 2) or mixed pre- and post-axial polydactyly true ocular hypertelorism macrocephal...
Article

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...
Article

Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is defined as 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 ...
Article

Haemoglobinopathies

Introduction A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1.  The result is reduced oxygen carrying capacity of the blood to the tissues. Terminology Types of hemoglobinopathies include the following: Sickle cell disease (Hb S) Sickle cell trait (HB AS) ...
Article

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...
Article

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome was first described as cranioskeletal dysplasia 1 in 1948. It is a very rare connective tissue disorder with only 50 cases reported in the literature 2. Clinical presentation It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history...
Article

Hamman syndrome

Hamman syndrome, also known as Macklin syndrome, refers to spontaneous pneumomediastinum along with subcutaneous emphysema. Epidemiology It is a rare entity most often encountered in young adults. It is a known entity peri- and postpartum 3. Clinical presentation The condition is most common...
Article

Heerfordt syndrome

Heerfordt(-Waldenström) syndrome or uveoparotid fever is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown, as only isolated case reports exist. Neurologic involvement may occur...
Article

Heiner syndrome

The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk. The syndrome includes: rectal blood loss with hypochromic microcytic anaemia pulmonary infiltrates (often recurrent) hypoproteinaemia See also pulmonary haemosiderosis
Article

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...
Article

Hemiconvulsion-hemiplegia epilepsy syndrome

Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy. It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Article

Hemifacial microsomia

Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. The condition may vary from mild to severe. Goldenhar syndrome has been described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present. Terminology HFM is al...
Article

Hemihyperplasia

Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Article

Hemimedullary syndrome

Hemimedullary syndrome, also known as Reinhold syndrome, occurs as a result of the occlusion of the ipsilateral vertebral artery proximal to the posterior inferior cerebellar artery and its anterior spinal artery branches 1-3. This situation causes lateral medullary infarct and medial medullary ...
Article

Hepatopulmonary syndrome

Hepatopulmonary syndrome (HPS) refers to the combination of hepatic dysfunction (cirrhosis) hypoxaemia (alveolar-arterial O2 gradient of >15mmHg; >20mmHg in >64year old patients). peripheral pulmonary arterial dilatation (due to right to left micro-shunts). Epidemiology It is estimated to b...
Article

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast canc...
Article

Hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevale...
Article

Hereditary non-polyposis colorectal cancer

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using cl...
Article

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterised by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3.  This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndro...
Article

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of: oculocutaneous hypopigmentation (albinism) platelet dysfunction  abnormal storage of autofluorescent pigment (ceroid or lipofuscin)  typically occurs within lysosomal organelles of the cells of multiple organs and the reti...
Article

Heterotaxy syndrome

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

Heyde syndrome

Heyde syndrome is an association between aortic valve stenosis and gastrointestinal haemorrhage. The aetiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related...
Article

HIV-associated nephropathy

HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy. Epidemiology HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
Article

Horizontal gaze palsy with progressive scoliosis

HGPPS is a rare autosomal recessive AR congenital anomaly caused by mutation of ROBO3 gene on chromosome 11. Clinical presentation Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomo...
Article

Hydrolethalus syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterised by multiple developmental defects of fetus which include  midline malformations cleft lip + / - palate CNS malformations fetal hydrocephalus agenesis of the corpus callosum Dandy-Walker malformation absent midline stru...
Article

Hyper IgE syndrome

Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staph aureus chest infections, characteristic coarse facial appearance and dental prob...
Article

Hyperperfusion syndrome after carotid endarterectomy

Hyperperfusion syndrome after carotid endarterectomy (CEA) or carotid artery stenting (CAS) is a rare complication.  Epidemiology Hyperperfusion occurs in ~7.5% (range 1-14%) of patients but only a minority (~1.5%) of patients are symptomatic 1,2, with incidence being reported slightly more af...
Article

Hypomelanosis of Ito

Hypomelanosis of Ito (HI), also known as incontinentia pigmentiachromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems. Epidemiology The prevalence is unknown, being reported since 1 per 8000 patients in a general pediatric hospital 3...
Article

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...
Article

Hypothenar hammer syndrome

Hypothenar hammer syndrome occurs from trauma to the distal ulnar artery or proximal portion of superficial palmar arch as a result of repetitive trauma to the hypothenar eminence. Originally described in patients using hammers and screwdrivers, it is also seen in various athletes such as basket...
Article

Idiopathic pneumonia syndrome

Idiopathic pneumonia syndrome (IPS) refers to diffuse lung injury which can occur following haematopeotic stem cell transplantation where neither an infectious nor non-infectious aetiology can be found. Epidemiology The incidence of IPS is thought to be around 12% following haematopoetic stem ...
Article

Iliotibial band syndrome

Iliotibial band (friction) syndrome is a common cause of lateral knee pain related to intense physical activity resulting in chronic inflammation. Epidemiology Commonly affect young patients who are physically active, most often long distance runners or cyclists. The exact prevalence is unknow...
Article

Immune reconstitution inflammatory syndrome

Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of highly active anti-retroviral therapy (HAART). Increasing...
Article

Incontinentia pigmenti

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, specially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males. Epidemiology Incontinentia pigmenti is rare and the true pre...
Article

Inferior medial pontine syndrome

Inferior medial pontine syndrome, also known as Foville syndrome, is one of the brainstem stroke syndromes occurring when there is infarction of the medial inferior aspect of the pons due to occlusion of the paramedian branches of the basilar artery 1-3. This infarction involves the following 1-...
Article

Internuclear ophthalmoplegia

Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other abducting eye, due to a lesion in the medial longitudinal fasciculus (MLF) ipsilateral to the eye unable to adduct. It is a common finding in multi...
Article

Ischiofemoral impingement

Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur, primarily the quadratus femoris muscle. Narrowing of the distance between these two osseous landmarks (ischiofemoral space) predisposes for and correlates with i...
Article

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry is the characteristic enlargement of one of the ischiopubic synchondroses. While it most commonly a normal variant of the developmental process, it is sometimes thought to be syndromic (then called ischiopubic synchondrosis syndrome or van Neck-Odelberg diseas...
Article

Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article

Jaffe-Campanacci syndrome

Jaffe-Campanacci syndrome is characterised by: multiple non-ossifying fibromas of the long bones and jaw café au lait spots intellectual disability kyphoscoliosis hypogonadism or cryptorchidism ocular malformations cardiovascular malformations giant cell granuloma of the jaw History and...
Article

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance. Clinical presentation There is a wide variability in the clinical presentation, but common features are: low birth weight hyp...
Article

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:  growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomal...
Article

Juvenile polyposis syndrome

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps. Epidemiology Presentation in the second decade is most common 2. Clinical presentation Rectal bleeding, bowel obstruction and intussuscept...
Article

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Pathology The cause for t...
Article

Kartagener syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Article

Kasabach-Merritt syndrome

Kasabach-Merritt syndrome, also known as haemangioma thrombocytopaenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumour is responsible for thrombocytopaenia, microangiopathic haemolytic anaemia and consumptive coagulopathy. Pathology Vasc...
Article

Klinefelter syndrome

Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal testes...
Article

Klippel-Feil syndrome

Klippel-Feil syndrome (KFS) 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 recognised female predilection 1. KFS has an incidence of 1:40,000-42,000 2. Clin...
Article

Klippel-Trénaunay-Weber syndrome

Klippel-Trénaunay-Weber syndrome (KTWS) is a syndrome combination of capillary malformations, soft-tissue or bone hypertrophy, and varicose veins or venous malformations. It is considered an angio-osteo-hypertrophic syndrome. KTS classically comprises a triad of: port wine nevi bony or soft t...
Article

Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias.  Entities included in a differential for the class are: congenital bowing of the long bones cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type) ...
Article

Labrune syndrome

Labrune syndrome (LS) is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and cysts. Epidemiology LS is an extremely rare condition, with no more than 10 cases reported in literature 2. The onset occurs from early infancy to adolescence; few cases have...
Article

Lacunar stroke syndrome

Lacunar stroke syndrome (LACS) 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 warnin...
Article

Lambert-Eaton myasthenia syndrome

Lambert-Eaton myasthenia syndrome (LEMS) is rare but is still the second most common neuromuscular junction disease after myasthenia gravis. Two-thirds of LEMS present as a paraneoplastic syndrome secondary to malignancy, most commonly lung cancer but is also associated with breast, ovarian and ...

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