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.

95 results found
Article

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion syndrome​ a...
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Accessory navicular syndrome

Accessory navicular syndrome occurs when a type II accessory navicular (or "os tibiale externum") becomes painful due to movement across the pseudojoint between the ossicle and the navicular bone. Radiographic features Ultrasound It can be inferred on musculoskeletal ultrasound if a patient's...
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Achondrogenesis

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

Acrocephalosyndactyly syndromes (ACS) is a rare group of disorders collectively characterised 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 majo...
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Acrodysostosis

Acrodysostosis is a rare skeletal dysplasia characterised by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, mental retardation and deafness. Pathology Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to occur...
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Amniotic band syndrome

Amniotic band syndrome (ABS) comprises of 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 phenomen...
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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. Clinical presentation Clinical features of anterior ankle impingement syndrome include painful and limited dorsiflexion and anterior joint line swellin...
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Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations. Epidemiology The estimated incidence is at 1:65-80,000 pregnancies. Pathology Thought to occur from a defect on the fibroblast growth factor receptor...
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Asphyxiating thoracic dysplasia

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

Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae (LSTV) and low back pain, and can be an important cause in young patients.  It is considered controversial and has been both supported and disputed since Mario Bertolotti first described it in 1917. Some st...
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Biceps chondromalacia

Biceps chondromalacia is an attritional lesion of the humeral head caused by repeated abrasion by the intra-articular segment of the long head of biceps tendon. Pathology The long head of biceps brachii arises from the supraglenoid tubercle of the glenoid fossa and has intrarticular and extra-...
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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. A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity ...
Article

Camptodactyly arthropathy coxa vara pericarditis syndrome

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

Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia.  Epidemiology Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.   Clinical presentation Diagnosis is usually readily made at birth or with antenatal ultrasound. It is...
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Camurati-Engelmann disease

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD), 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 ...
Article

Carpal boss

The carpal boss is an unmovable hypertrophied bony protuberance at the base of the second or third metacarpals on the dorsal surface, near the capitate and trapezium.  Pathology The condition may represent either or a combination of: degenerative osteophyte formation os styloideum (an access...
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Carpal tunnel syndrome

Carpal tunnel syndrome (CTS) results from compression of the median nerve 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 syndrome.  Epidem...
Article

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 number of features which include: craniofacial malformations craniosynostoses kleeblattschädel (cloverleaf ...
Article

Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection has been ruled out. Epidemiology There is a female predominance, with 85% of cases reported i...
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Clasp-knife deformity

Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction.   Clinical presentation Clasp-knife syndrome, is one of many causes of low back pain. It occurs when a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlar...
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Complex regional pain syndrome

Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition which can affect the extremities in a wide clinical spectrum. Terminology Two types of CRPS have been described 8: type 1: no underlying single nerve lesion (formerly known as reflex sympathetic dystrophy) ty...
Article

Conus medullaris syndrome

Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome. Pathology The conus medullari...
Article

Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterised 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 naevus, when it is considered a type o...
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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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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...
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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...
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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

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...
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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

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

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

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

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...
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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

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...
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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...
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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

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

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...
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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...
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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...
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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

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 ...
Article

Langer Giedion syndrome

Langer-Giedion syndrome (LGS), also known as trichorhinophanageal 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: phalangeal...
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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 characterised by many features i...
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Laurin-Sandrow syndrome

Laurin-Sandrow syndrome is a rare disorder characterized by tetrameric polysyndactlyly. Radiographic features polysyndactyly of the hands (both post-axial and pre-axial) "cup-shaped" hands mirror polysyndactyly of the feet ulnar dimelia absence of the radius and tibia possible hypertelori...
Article

Löfgren syndrome

Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis, consisting of:  constitutional symptoms fever malaise erythema nodosum hilar adenopathy: see thoracic manifestations of sarcoidosis arthritis: see musculoskeletal manifestations of sarcoidosis uveitis (occ...
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Maffucci syndrome

Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterised by multiple enchondromas with soft-tissue venous malformations (haemangiomas). On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grote...
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Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of defect in fibrillin 1 gene. The affected patients are tall with long disproportionate extremities and have pectus excavatum, arachnodactyly, and may also experience upward and lateral optic lens dis...
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Mazabraud syndrome

Mazabraud syndrome is a rare syndrome comprising of: fibrous dysplasia: usually polyostotic 2 multiple soft tissue myxomas (intramuscular myxomas): typically in large muscle groups Epidemiology It is most frequently seen in women (~70%) and usually present in middle age (mean age 46; range 1...
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McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a genetic disorder characterised by the association of: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine 'cafe au lait' spots Clinical presentation Presentation is va...
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Medial patellar plica syndrome

Medial patellar plica syndrome is one of the conditions that can be associated with the presence of synovial plicae of the knee (in this instance a medial plica). It can be a common source of anterior knee pain. Epidemiology While it can affect those of any age, it typically involves the young...
Article

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 dependant mitochondrial enzymes.  Epidemiology Menk...
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Milwaukee shoulder

Milwaukee shoulder refers to a destructive shoulder arthropathy due to deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis. Epidemiology Milwaukee shoulder frequently affects older women, often with a history of trauma t...
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Morgagni syndrome

Morgagni syndrome consists of the triad of: hyperostosis frontalis interna obesity virilism and hirsutism History and etymology It was first described in 1765 by the Italian anatomist and pathologist Giovanni Battista Morgagni (1682-1771)
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Morquio syndrome

Morquio 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. Clinical features: severe dwarfism (<4 foot) joint laxity corneal opaci...
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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...
Article

Nail-patella syndrome

Nail-patella syndrome, also known as Fong disease or osteo-onychodysostosis, is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities. Clinical presentation Clinically, the key feature is absent/hypoplastic nails from birth. Individuals may ...
Article

Olecranon bursitis

Olecranon bursitis refers to inflammation of the olecranon bursa. The olecranon bursa is a subcutaneous sac that overlies the olecranon process and contains a small amount of fluid to prevent against injury of subcutaneous tissue and skin from the uncovered bony olecranon. Pathology Aetiology ...
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Osteoporosis pseudoglioma syndrome

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

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

Paraneoplastic syndromes

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

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

POEMS syndrome is an acronym for a rare multisystem disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly E: endocrinopathy M: monoclonal gammopathy S: skin changes (including hyperpigmentation and sk...
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Poland syndrome

Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognised 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...
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Poland-Möbius syndrome

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

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

PPP syndrome

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

Pre-axial polydactyly

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

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

Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. It comprises a constellation of signs and symptoms that result from compressi...
Article

Proteus syndrome

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

Quadrangular space syndrome

Quadrangular space syndrome (QSS) is an uncommon diagnosis mainly because of lack of literature on the subject and possible misdiagnosis. Epidemiology QSS is present on ~1% of shoulder MRIs 6.  Clinical presentation Patients present with posterior shoulder pain and paresthesia over the later...
Article

Radial tunnel syndrome

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

Reactive arthritis

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

Rett syndrome

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

Ruvalcaba syndrome

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

SAPHO syndrome

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

Sclerosteosis

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

Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts: bowel perforation mesenteric tear sternal fracture lumbar spine fracture
Article

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise of a rare group of severe osteochondrodysplasias. There are four major recognised 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 t...
Article

Sinus tarsi syndrome

Sinus tarsi syndrome (STS) 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 danc...
Article

Snapping hip syndrome

Snapping hip syndrome is simply an audible snapping sound produced during motion of the hip. It has both intra- and extra-articular causes. Pathology Extra-articular causes lateral iliotibial band snapping over the greater trochanter (iliotibial band syndrome - not always audible) gluteus ...
Article

Spondylocostal dysostosis

Spondylocostal dysostosis (SCDO) is a rare condition characterised by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
Article

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centres.  Clinical presentation short neck short trunk with protruding abdomen  normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly l...
Article

Stevens Johnson syndrome

Stevens Johnson syndrome (SJS) is an acute inflammatory skin condition.  Terminology SJS is on a spectrum of disease with toxic epidermal necrolysis (TEN) at the more severe end. Terminology depending on how much surface area is involved 1,2: SJS: <10% SJS-TEN overlap: 10-30% TEN: >30% Epi...
Article

Stewart-Treves syndrome

Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of post-mastectomy lymphoedema. It however only accounts for 10% of all angiosarcomas seen in the setting of chronic post-mastectomy lymphoedema.
Article

Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy 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, sole, or heel and the...
Article

Turner syndrome

Turner syndrome, also referred as 45X, is the most common of 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 45X abor...
Article

Ulnar dimelia

Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna and duplication of the ulnar halves of the carpals, metacarpals and phalanges 1. Pathology Embryology The embryology of mi...
Article

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 unlar styloid >6mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal ...

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