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Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHDS), also known as folliculin gene-associated syndrome, is a multi-system disease characterized by: cutaneous manifestations, typically fibrofolliculomas multiple lung cysts and spontaneous pneumothoraces increased risk of renal tumors, typically chromophobe oncocyt...

Morvan syndrome

Morvan syndrome, also known as Morvan fibrillary chorea, is a rare syndrome thought to be either paraneoplastic or autoimmune in origin. Clinical presentation It is characterized by: neuromyotonia pain hyperhydrosis weight loss severe insomnia hallucinations Pathology Voltage gated pot...

Superior vena cava obstruction

Superior vena cava obstruction (SVCO) can occur from extrinsic compression, intrinsic stenosis, or thrombosis of the superior vena cava. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms tha...

Nephrotic syndrome

Nephrotic syndrome results from loss of plasma proteins in the urine and characterized by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and edema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with marked...

Midaortic syndrome

Midaortic syndrome is an uncommon entity affecting children and young adults. It is characterized by progressive narrowing of the abdominal aorta and its major branches. Clinical presentation The onset of symptoms is usually during childhood or young adulthood 2: hypertension (most common) i...

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. Clinical presentation Affected patients usually appear nor...

F P Weber syndrome

F P Weber syndrome (FPWS) is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classification of CVMs. In his original...

Anterior ankle impingement syndrome

Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus. Epidemiology Common in soccer players and ballet dancers 1. Clinical presentation Clinical features of anterior ankle impingement syndrome include pa...

Sézary syndrome

Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma. Clinical presentation It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of malignant lymphocytes in the blood. History and etymology It is named after Albert...

Anti-synthetase syndrome

Anti-synthetase syndrome (ASS) is a systemic, inflammatory, autoimmune disease that is characterized by inflammatory myositis, polyarthritis associated with interstitial lung disease (ILD), and anti-synthetase autoantibodies. Pathology Anti-synthetase syndrome can result from autoantibodies to...

Sotos syndrome

Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...

Central cord syndrome

Central cord syndrome is the most common type of incomplete spinal cord syndrome, usually, the result of trauma, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of damage to the central portion spinal cord and in the setting of trauma most common...

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...

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...

All-trans retinoic acid syndrome

All-trans retinoic acid (ATRA) syndrome, more recently known as differentiation syndrome 8, is a condition that can occur with patients with acute promyelocytic leukemia who are on therapeutic all-trans-retinoic acid (ATRA). All-trans retinoic acid (ATRA) is a normal constituent of plasma that ...

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 ...

Lane-Hamilton syndrome

Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1. Epidemiology It is typically seen in children under the age of 15 but can occasionally be seen in adults. History and etymology It was originally described by D ...

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a clinical syndrome and considered the most common and the most lethal form of pulmonary fibrosis corresponding to the histologic and imaging pattern of usual interstitial pneumonia. It is more common in elderly men and diagnosed by: histological or imagi...

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...

Sinus tarsi syndrome

Sinus tarsi syndrome is the clinical syndrome of pain and tenderness of the lateral side of the hindfoot, between the ankle and the heel. Imaging often demonstrates the ligaments and soft tissues in the sinus tarsi are injured. Epidemiology Sinus tarsi syndrome has been described in dancers, v...

SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In addition to these there can be numerous associated minor features whi...

Primary hyperaldosteronism

Primary hyperaldosteronism is a condition of excess aldosterone production and occurs secondary to adrenal cortical adenoma, bilateral adrenal hyperplasia, or rarely, adrenal carcinoma. When primary hyperaldosteronism is due to aldosterone-producing adenoma it is called Conn syndrome 2,3,9. Diff...

Wunderlich syndrome

Wunderlich syndrome is a rare condition in which spontaneous non-traumatic renal hemorrhage occurs into the subcapsular and perirenal spaces. Clinical presentation Wunderlich syndrome is clinically characterized by Lenk's triad: acute flank pain flank mass hypovolemic shock Mnemo...

Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy coxa vara deformity or other dysplasia associated with progressive hip disease pericardit...

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 antiretroviral therapy (ART). Increasingly, however, it i...

Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules and plaques) a diffuse infiltrate consisting predom...

Adams-Oliver syndrome

The Adams-Oliver syndrome (AOS) is a rare disorder characterized by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects. It may be accompanied by orofacial and cardiac malformations 6. Associations polymicrogyria: may be associated with a...

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. If the clinical presentation is atypical, pulled elbow should be distinguished from ...

Robinow syndrome

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms. Terminology Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8. Epidemiolo...

CHILD syndrome

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome comprises: Ch: congenital hemidysplasia I: ichthyosiform erythroderma develops at or shortly after birth unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk 2 hair ...

Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia, syndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia. Pathology When ...

Barth syndrome

Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy. Epidemiology Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births. Clinical presentation It is characte...

Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...

Marshall-Smith syndrome

Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum. Clinical presentation general fetal macrosomia failure to thrive skelet...

Postaxial polydactyly

Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th (little) toe. Epidemiology Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 5. Associations Postaxial polyd...

Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy (tunnel syndrome) of the (posterior) tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome. Clinical presentation The most common symptoms are pain and paresthesia in the toes, s...

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...

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 ...

Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, usually without an obstructing lesion (but not always). It is usually with associated bronchiectasis. Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lad...

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...

Duane-radial ray syndrome

Duane-radial ray syndrome, also known as the Okihiro syndrome, is a rare an autosomal dominant condition characterized by radial ray defects and Duane syndrome (a form of strabismus with partial horizontal gaze palsy). Pathology Duane-radial ray syndrome is caused by a pathogenic mutation to S...

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...

Van der Woude syndrome

Van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae/pits with cleft lip and/or palate. It is one of the most common clefting syndromes in humans 1 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...

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...

Greig cephalopolysyndactyly syndrome

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

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...

Stauffer syndrome

Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement of the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice. History and etymology It is named after Maurice ...

Chondroectodermal dysplasia

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5. Epidemiology Associations congenital cardiac anomalies: may be present in up to ~50% of cases Clinical spectrum Clinica...

Juberg-Hayward syndrome

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

Sheehan syndrome

Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume hemorrhage and hypovolemic shock, either during delivery or afterward with resultant necrosis of anterior pituitary cells 4. Epidemiology Advances in obs...

Occipital horn syndrome

Occipital horn syndrome, also known as X-linked cutis laxa or Ehlers Danlos type IX, is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. Menkes disease is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital hor...

Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized 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 te...

Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...

Lowe syndrome

Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys. Epidemiology It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...

Atelosteogenesis

Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine. Pathology Subtypes atelosteogenesis type I (boomerang dysplasia) atelosteogenesis type II atelosteogenesis type III 4

Aarskog syndrome

Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. Epidemiology Population pre...

Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity. Epidemiology Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases. Clinical presentation congenital hyp...

Crouzon syndrome

Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses. Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull" shallow orbits with exophthalmos mid facial hypoplasia bifid uvula Gen...

Dandy-Walker variant

Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM), characterized as partial vermian hypoplasia with partial obstruction to the fourth ventricle. It is considered on the lesser end of the disease spectrum in the Dandy-Walker conti...

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3). Clinical presentation There is a large clinical spectrum: CNS agenesis of the corpus callosum hypertelorism coloboma seizures 4 craniofacial c...

Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism. Epidemiology Associations single umbilical artery Clinical presentation intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: ...

Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features: fetal thrombocytopenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...

Hydrolethalus syndrome

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

Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...

Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Epidemiology Its incidence is 1 in 7500 live births 5. Clinical presentation Described features include: Ophthalmologic congenital or early-onset cataract congenital vitreous anomaly, rhegmatogenous re...

Nager syndrome

The Nager syndrome (also known as acrofacial dysostosis) is a rare congenital syndrome primarily characterized by facial and skeletal features Clinical presentation Recognized features include: facial: antimongoloid slant lower lid ptosis microtia micrognathia mandibular hypoplasia hear...

Chromosomal anomalies

There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies. They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced tra...

McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease

Larsen syndrome

Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia. Epidemiology The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection. Clinical presentation It is characterized by many features i...

Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by: calvarial anomalies, e.g. craniosynostoses digital anomalies, e.g. syndactyly Classification While there can be some overlap in features, they can be primarily classified into the following maj...

Distal intersection syndrome

The distal intersection syndrome relates to tenosynovitis of the extensor pollicis longus (EPL) tendon (3rd extensor compartment), where it crosses the extensor carpi radialis longus (ECRL) and brevis (ECRB) tendons (2nd extensor compartment) 1. It is distinct from intersection syndrome which oc...

Mendelson syndrome

Mendelson syndrome, also known as peptic pneumonia, refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia. Clinical presentation This syndrome develops rapidly (2-12 hours after aspiration) and within hours the patient may beco...

Fowler syndrome

Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition. Terminology Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting ...

Congenital high airway obstruction syndrome

Congenital high airway obstruction syndrome or sequence (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterized by obstruction to the fetal upper airway. Epidemiology Associations Fraser syndrome Pathology CHAOS can be of three possible ty...

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome. Clinical presentation Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical feat...

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized 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 syndrom...

Hypophosphatasia

Hypophosphatasia refers to a rare metabolic disorder characterized by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes). Epidemiology The true incide...

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also known as the testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings. Epidemiology The incidence may vary depending on whether it i...

Femoroacetabular impingement syndrome

Femoroacetabular impingement (FAI) syndrome is the clinical symptoms and signs of painful, limited hip motion resulting from certain types of underlying morphological abnormalities in the femoral head-neck region and/or acetabulum. Femoroacetabular impingement can lead to early degenerative dise...

Swyer-James syndrome

Swyer-James syndrome, also known as Swyer-James-MacLeod syndrome and Bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis. Epidemiology The condition typically follows a viral respiratory infection suc...

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare type...

Twin embolization syndrome

Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin. Pathology It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...

Cobb syndrome

Cobb syndrome, also called cutaneous vertebral medullary angiomatosis, or spinal arteriovenous metameric syndrome, consists of the presence of a vascular nevus with a spinal vascular malformation of the same body somite (metamere). The importance of this syndrome is the recognition that cutane...

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...

Carcinoid syndrome

Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion. Epidemiology Occurs equally between the sexes, most commonly in the 40-70 year age group 3. Clinical presentation Diarrhea is the most common and earliest symptom but others ...

Post-embolization syndrome

Post-embolization syndrome (PES) is one of the most common complications of transarterial embolization and chemoembolisation. The condition comprises a constellation of symptoms including pain, fever, nausea and vomiting. PES usually occurs within the first 72 hours after solid organ embolizatio...

Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...

Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Epidemiology There is recognized strong female predi...

Meigs syndrome

Meigs syndrome is defined as the presence of ascites and pleural effusion in association with a benign, usually solid ovarian tumor, most commonly an ovarian fibroma. Epidemiology Most presentations occur in post-menopausal women with a peak incidence at ~70 years old. It is extremely rare in ...

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 comprise of: cryptophthalmos syndactyly: often cutaneous tracheal atre...

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 multisystem manifestations. Epidemiology The approximate worldwide incidence is approximately 1 in 800 live births 15. The...

Achondrogenesis

Achondrogenesis refers to a group of rare and extreme skeletal dysplasias. Epidemiology The estimated incidence is 1:40,000, with no recognized gender predilection. Pathology It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...

Encapsulating peritoneal sclerosis

Encapsulating peritoneal sclerosis is a rare benign cause of acute or subacute small bowel obstruction. It is characterized by total or partial encasement of the small bowel within a thick fibrocollagenous membrane. Terminology The condition was originally termed abdominal cocoon. The conditio...

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