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.

137 results found
Article

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome (trisomy 21) campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion...
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18q-deletion syndrome

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

Accessory navicular syndrome occurs when a type II accessory navicular becomes painful due to movement across the pseudo-joint between the ossicle and the navicular bone. Radiographic features Ultrasound It can be inferred on musculoskeletal ultrasound if a patient's pain is located at a type...
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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 recognized 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) 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...
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Acrodysostosis

Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, intellectual disability and deafness. Pathology Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to ...
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Acute compartment syndrome

Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment. Epidemiology Acute compartment syndrome is more comm...
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Adductor canal syndrome

Adductor canal syndrome (also known as adductor canal compression syndrome) is a rare, non-atherosclerotic cause of arterial occlusion and limb ischemia 1. There is compression of the superficial femoral artery (SFA) in the adductor canal. Epidemiology External compression of the superficial f...
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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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Antley-Bixler syndrome

Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common. Epidemiology It is a very rare condition with only 50 cas...
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Apert syndrome

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

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome. There are no formal diagnostic criteria for this disease, but characterist...
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Bertolotti syndrome

Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed since the Italian radiologist Mario Bertolotti (187...
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Bone marrow edema syndrome of the foot and ankle

Bone marrow edema syndrome of the foot and ankle, also known as transient bone marrow edema syndrome of the foot and ankle, refers to the presence of self-limited, patchy bone marrow T2 hyperintensities in the bones of the ankle and/or foot of unknown etiology. It is related to transient osteopo...
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Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...
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Buschke-Ollendorff syndrome

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

Caffey disease

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

Campomelic dwarfism

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

Camptocormia (bent spine syndrome or cyphose hystérique) is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when laying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case series (n=16), ...
Article

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...
Article

Camurati-Engelmann disease

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

Carpal tunnel syndrome 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.  Epidemiology...
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Carpenter syndrome

Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder. Clinical spectrum It is characterized by a number of features which include: craniofacial malformations craniosynostoses kleeblattschädel (cloverlea...
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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 and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...
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Clasp-knife deformity

Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction. Terminology When a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlarged spinous process (knife blade) into the sacral spinal canal, it is called clasp-k...
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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...
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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...
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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. Clinical presentation Patient...
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Cowden syndrome

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

CREST syndrome (also known as. limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for C - calcinosis R - Raynaud phenomenon E - oesophageal dysmotility S - sclerodactyly T - telangiectasia See also systemic sclerosis
Article

Crouzon syndrome

Crouzon syndrome 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 Genetics It carries an autosomal dominant...
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Cubital tunnel syndrome

Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy due to pathological compression of the ulnar nerve along its course within the cubital tunnel. Epidemiology Compression of the ulnar nerve at the elbow is the second most common peripheral neuropathy of the upper extremity...
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Cuboid syndrome

Cuboid syndrome is a cause of lateral midoot pain, believed to result from abnormal articulation of the cuboid with the calcaneus (calcaneocuboid joint). Clinical presentation Cuboid syndrome presents with lateral foot pain and swelling, often diffuse and similar to an ankle (ligament) sprain ...
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Currarino-Silverman syndrome

Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder. Clinical presentation Patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centers. Congenital heart diseases have...
Article

Cyriax syndrome

Cyriax syndrome, also known as slipping rib syndrome, occurs when hypermobility of the rib cartilage of the lower ribs slips and moves, leading to pain in lower chest or upper abdomen 1. Epidemiology This condition may occur at any age, but is reportedly more common in middle-aged adults, and ...
Article

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...
Article

Dysplasia epiphysealis hemimelica

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

Familial multiple lipomatosis (FML) is a hereditary syndrome of multiple encapsulated lipomas which are found on the trunk and extremities, with relative sparing of the head and shoulders.  Terminology It is clinically distinct from the similarly named multiple symmetric lipomatosis with which...
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

Femoral facial syndrome

Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1. Clinical presentation Femoral facial syndrome can cause varying degrees of femoral malformation rang...
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Flat back syndrome

Flat back syndrome (FBS) refers to the decrease or absence of the normal lumbar lordosis resulting primarily in chronic lumbar pain. Terminology  Flat back syndrome is a different condition from straight back syndrome and the two should not be confused or conflated. Clinical presentation Mos...
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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....
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Glycogen storage disease

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

Haglund syndrome refers to the triad (Haglund triad) of: insertional Achilles tendinopathy retrocalcaneal bursitis Haglund deformity (i.e. posterosuperior calcaneal exostosis) This results in pain at the back of the heel. It is associated with calcaneal spurs, and the wearing of high heels (...
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Hajdu-Cheney syndrome

Hajdu-Cheney syndrome 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. There has been no link between severity of disease and age o...
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Hamatolunate impingement syndrome

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

Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet.  Causative drugs Many chemotherapeutic...
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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 ...
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Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...
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Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomp...
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Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness and cardiac disease. Death usually occurs within the fi...
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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 (also known as van Neck-Odelberg disease) is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding. However, some ...
Article

Jaffe-Campanacci syndrome

Jaffe-Campanacci syndrome is characterized 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...
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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...
Article

Kasabach-Merritt syndrome

Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy. Pathology Vascular t...
Article

Klippel-Feil syndrome

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

Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology. Epidemiology LEMS is the second most common neuromuscular junction disease after myasthenia gravis.  Two-thirds of LEMS present as a paraneoplastic syndrome sec...
Article

Langer-Giedion syndrome

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

Leprosy

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

Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles. Clinical presentation Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...
Article

Löfgren syndrome

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

Madelung disease

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

Maffucci syndrome

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

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A. The syndrome's key characteristics are: phal...
Article

Marfan syndrome

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

Mazabraud syndrome

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

McCune-Albright syndrome

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

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

Medial tibial stress syndrome

Medial tibial stress syndrome (MTSS), also known as shin splints, describes a spectrum of stress injury that occurs at the medial tibia. This term is often used to indicate any type of tibial stress injury or the earlier manifestations of a tibial stress lesion before a fracture component can be...
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-dependent mitochondrial enzymes.  Epidemiology Menk...
Article

Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets Pena and Vaandrager type - intermedi...
Article

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...
Article

Morgagni-Stewart-Morel syndrome

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

Morquio syndrome

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

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

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...
Article

Nail-patella syndrome

Nail-patella syndrome (also known as Fong disease, osteo-onychodysostosis, Österreicher-Turner syndrome 10, Turner-Kieser syndrome, and Trauner-Rieger syndrome) is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities. Clinical presentation ...
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 Etiology ...
Article

Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder. Epidemiology OS-CS is extremel...
Article

Osteoporosis pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized 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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