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Preaxial polydactyly

Preaxial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially). Epidemiology Preaxial polydactyly is less common than postaxial polydactyly, with an estimated incidence of 1 in 7000. Associations Preaxial polydact...

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities. Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosa...

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...

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...

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Clinical present...

Yunis-Varón syndrome

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment include small cerebellar vermis and dandy walker malformation cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognath...

Radiologically isolated syndrome

Radiologically isolated syndrome (RIS) is defined by MRI findings meeting the McDonald criteria for multiple sclerosis in the brain and/or spinal cord in asymptomatic patients. Radiological progression usually occurs in approximately 66% of patients with RIS, while ~33% per 5-year-period will su...

Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is one of numerous polyposis syndromes and is characterized by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on loca...

Juvenile polyposis syndrome

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

Familial adenomatous polyposis

Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli and attenuated familial adenomatous polyposis are variants of the same disease a...

Buried bumper syndrome

Buried bumper syndrome is a rare but important complication in patients with a percutaneous gastrostomy (PEG) tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening complications tha...

X-linked Opitz G/BBB syndrome

X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are: facial anomalies ocular hypertelorism prominent forehead widow's peak broad nasal bridge anteverted nares cleft lip and/or palate laryngotracheoesophage...

Pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. Epidemiology Pituitary stalk interruption syndrome...

Carotidynia

Carotidynia, also known as Fay syndrome, is a rare syndrome characterized by neck pain in the region of the carotid bifurcation. It was classified by the International Headache Society (IHS) in 1988 as an idiopathic neck pain syndrome associated with tenderness over the carotid bifurcation with...

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...

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...

Hemimedullary syndrome

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

Lateral pontine syndrome

Lateral pontine syndrome, also known as Marie-Foix syndrome or Marie-Foix-Alajouanine syndrome, refers to one of the brainstem stroke syndromes of the lateral aspect of the pons. Clinical presentation There is a characteristic clinical presentation 1,2,4: ipsilateral limb ataxia: cerebellar ...

Inferior medial pontine syndrome

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

Claude syndrome

Claude syndrome is one of the brainstem stroke syndromes in which there is infarction of the dorsomedial aspect of the midbrain. Clinical presentation Clinical picture is characteristic and includes ipsilateral oculomotor nerve palsy and contralateral upper and lower limb ataxia 1-4. Patholog...

Medial medullary syndrome

Medial medullary syndrome, also known as Déjerine syndrome, is secondary to thrombotic or embolic occlusion of small perforating branches from vertebral or proximal basilar artery supplying the medial aspect of medulla oblongata1,2. Epidemiology Represents less than 1% of brainstem stroke syn...

CLOVES syndrome

CLOVES syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Terminology Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...

Schimmelpenning syndrome

Schimmelpenning syndrome is a rare and variable congenital multisystem condition characterized by extensive linear sebaceous nevi and multisystem neuroectodermal abnormalities. It is an epidermal nevus syndrome (ENS). Clinical presentation Classical triad including sebaceous nevi, seizures, an...

Zollinger-Ellison syndrome

Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to elevated gastrin levels produced by a gastrinoma. Clinical presentation Diagnosis of Zollinger-Ellison syndrome is often delayed by 5-7 years after the onset of symptoms 2. Pathology Gastrinomas are usually mu...

Epidermal nevus syndrome

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

Hypomelanosis of Ito

Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems. Epidemiology The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...

Incontinentia pigmenti

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

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 7. Epidemiology It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between the severity of disease and age of dia...

Accessory navicular syndrome

The accessory navicular syndrome, also known as os naviculare 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 ultrasoun...

Neurofibromatosis type 1 (thoracic manifestations)

Thoracic manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. For thoracic manifestations involving the skeleton, such as focal thora...

Neurofibromatosis type 1 (cutaneous manifestations)

Cutaneous manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are the heralding features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. Nowadays genetic testing permits the laboratory diagnosis of NF1 in as many as 95%, although ...

Benedikt syndrome

Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus. Clinical presentation ipsilateral CN III palsy 1-4 crossed hemiataxia 1-4 crossed choreoathetosis 1-4 Pathology It is us...

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...

Posterior spinal artery syndrome

Posterior spinal artery syndrome is a rare syndrome associated occlusion of the posterior spinal artery and results in a unilateral dorsal cord syndrome (since the posterior arteries are paired) 3. The syndrome is clinically characterized by isolated loss of proprioception and vibratory sensat...

Ventral cord syndrome

Ventral cord syndrome (also known as anterior cord syndrome) is one of the incomplete cord syndromes and affects the anterior parts of the cord resulting in a pattern of neurological dysfunction dominated by motor paralysis and loss of pain, temperature and autonomic function. Anterior spinal ar...

Spinal cord injury

Spinal cord injury (SCI) can be traumatic or non-traumatic (e.g. neoplastic compression or degenerative stenosis) but the syndromes associated with spinal cord injury can be seen in all etiologies. Injuries to the spinal cord can be incomplete or complete and are graded on the ASIA impairment s...

Amelia

Amelia refers to a skeletal dysplasia characterized by the complete agenesis of an upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocele and diaphragmatic hernias 3. Epidemiology Amelia is a very rare congenital anomaly with an incid...

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia, previously known as adrenogenital syndrome, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis. Epidemiology The incidence is highly variable depending on the enzyme deficiency, ranging from 1 in ...

Brown-Séquard syndrome

Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...

Rotational vertebral artery occlusion syndrome

Rotational vertebral artery occlusion syndrome, also known as bow hunter's syndrome, is a rare form of vertebrobasilar insufficiency secondary to dynamic compression of the usually dominant vertebral artery. Clinical features Symptoms are usually transient and elicited upon rotation of the he...

Zinner syndrome

Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Epidemiology The condition is rare, with approximately only 200 reported cases until 2009 9. Clinical presentation P...

Segmental arterial mediolysis

Segmental arterial mediolysis (SAM) is an increasingly recognized vascular disease of the middle-aged and elderly and a leading cause of spontaneous intra-abdominal hemorrhage. It is characterized by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. Im...

Idiopathic pneumonia syndrome

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

Ortner syndrome

Ortner syndrome, also known as cardiovocal syndrome, is characterized by hoarse voice resulting from left recurrent laryngeal nerve palsy secondary to a cardiovascular disorder. Pathology Left recurrent laryngeal nerve palsy in this condition is due to traction or compression of the nerve betw...

Horizontal gaze palsy with progressive scoliosis

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disease. Clinical presentation Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomotor nerve and...

Syndrome of inappropriate antidiuretic hormone secretion

The syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) (also known as Schwartz-Bartter syndrome) was initially described in patients with lung cancer who developed hyponatremia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in whi...

Dressler syndrome

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

Hemiconvulsion-hemiplegia epilepsy syndrome

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

Hamman syndrome

Hamman syndrome, also known as Macklin syndrome, refers to spontaneous pneumomediastinum with subcutaneous emphysema. Epidemiology It is a rare entity most often encountered in young adults, particularly in the peri- and postpartum periods 3. Clinical presentation Hamman syndrome is most com...

Cauda equina syndrome

Cauda equina syndrome is considered an incomplete cord syndrome, even though it occurs below the conus. Cauda equina syndrome refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is most commonly caused by an acutely...

Leaky lung syndrome

Leaky lung syndrome refers to a form of non-cardiogenic pulmonary edema. Pathology Pulmonary edema due to increased capillary permeability. Radiographic features Leaky lung syndrome is considered a mild form of a part of the spectrum of acute lung injury with ARDS at the other end of the s...

Cerebral hypoventilation syndrome

Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of the cardiorespiratory system. There is a decrease in the depth of breathing. It is also known as central sleep apnea, congenital central hypoventilatio...

Anterior choroidal artery syndrome

Anterior choroidal artery syndrome is a rare entity characterized by the triad of: hemiplegia hemianaesthesia contralateral hemianopia This occurs as a result of cerebral infarction in the anterior choroidal artery territory. The syndrome may also be associated with neuropsychological disor...

Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a non-malignant but often fatal disorder of immune dysregulation affecting multiple organs. It is also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder. Epidemiology It typically affects infants and yo...

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...

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 ...

Yellow nail syndrome

The yellow nail syndrome (YNS) is a rare disorder principally affecting the lymphatic system. It is characterized by a clinical triad: nail discolouration (chromonychia): yellow to dark green slow-growing dystrophic nails (scleronychia) 9 lymphedema (peripheral/primary) pulmonary disease: se...

Neck tongue syndrome

Neck tongue syndrome is rare and comprises altered sensation in one side of the tongue aggravated by neck movement with ipsilateral neck pain 1. Epidemiology Neck tongue syndrome is seen in a wide range of ages but is more commonly reported in older children and young adults 1-3. Clinical p...

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...

Vogt-Koyanagi-Harada disease

Vogt-Koyanagi-Harada disease is a multisystem disorder characterized by granulomatous panuveitis with exudative retinal detachments that are often associated with neurologic and cutaneous manifestations. Epidemiology Vogt-Koyanagi-Harada disease usually affects those of Asian, Middle Eastern, ...

Antiphospholipid syndrome (pulmonary manifestations)

Pulmonary involvement in antiphospholipid syndrome is one of the most frequent arterial complications of antiphospholipid syndrome. Pathology It is essentially related to pulmonary arterial microthrombosis and may cause a wide spectrum of conditions, which include 3-5: pulmonary thromboembol...

Antiphospholipid syndrome

Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients with circulating antiphospholipid antibodies. Clinical presentation Antiphospholipid syndrome is characterized by venous, a...

Slit ventricle syndrome

Slit ventricle syndrome refers to cerebrospinal fluid shunt-related symptoms in the setting of small ventricles demonstrated on radiologic studies. Clinical presentation The presence of characteristic symptoms is required to diagnose slit-ventricle syndrome and must be distinguished from slit-...

Reactive arthritis

Reactive arthritis (ReA) is a sterile inflammatory monoarticular or oligoarticular 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 Reite...

Idiopathic retroperitoneal fibrosis

Idiopathic retroperitoneal fibrosis, also known as Ormond disease or occasionally Albarran-Ormond syndrome 6, is a subtype of retroperitoneal fibrosis where no cause is found. It includes a spectrum of diseases that are characterized by fibroinflammatory tissue encasing the abdominal aorta and t...

Wartenberg syndrome

Wartenberg syndrome, also known as cheiralgia paresthetica, is due to compression of the superficial branch of the radial nerve in the distal forearm and a rare nerve compression neuropathy. Clinical presentation Patients present with pain and paresthesia along the dorsum of the distal forearm...

Sneddon syndrome

Sneddon syndrome is a type of systemic non-inflammatory vasculopathy characterized by livedo reticularis and progressive and occlusive cerebrovascular thrombosis involving the medium-sized arteries. Epidemiology Sneddon syndrome is more common in females, and tends to affect a young adult popu...

Neurocutaneous melanosis

Neurocutaneous melanosis or neurocutaneous melanomatosis, is a rare sporadic phakomatosis characterized by multiple congenital cutaneous nevi and meningeal melanocytosis/meningeal melanomatosis. Epidemiology Neurocutaneous melanosis tends to be diagnosed in the first few years of life with no...

Asplenia syndrome

Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome. Epidemiology There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates 4. Associations severe/complex congenital heart disease (50%), especially cyanotic ...

Wilson Mikity syndrome

Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia. History and etymology Almost 51 years ago, Wilson...

Acute spinal cord ischemia syndrome

Acute spinal cord ischemia syndrome is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor. Epidemiology Acute spinal cord ischemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demographic of affected...

Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. It can occur as part of Shwachman-Diamond syndrome (SDS). Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cuppe...

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. Some studies suggest lumbosacral transitional vert...

Nijmegen breakage syndrome

Nijmegen breakage syndrome, also known as Seemanova syndrome or Berlin breakage syndrome, is a rare autosomal recessive syndrome of chromosomal instability. Clinical presentation microcephaly present at birth and progressive with age dysmorphic facial features mild growth retardation mild...

Locked-in syndrome

Locked-in syndrome is one of the brainstem stroke syndromes and can occur as a result of a pontine stroke that damages the ventral brainstem, pyramidal bundles and corticobulbar tracts 5. Clinical presentation Individuals who are "locked-in" are conscious with preserved cognitive function but ...

Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein (ovarian venous varix) causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicosities of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian v...

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumors gliomas...

Tietze syndrome

Tietze syndrome is a benign condition characterized by a self-limiting inflammation of the costal cartilages often with hypertrophy. Although often described as such, it is not a costochondritis 9. Epidemiology The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...

Blueberry muffin syndrome

Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis. The syndrome was originally described in congenital...

Pepper syndrome

Pepper syndrome is a term not readily used in day-to-day practice and usually refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). Cohen syndrome, a genetic disorder, is sometimes referred to a...

Pendred syndrome

Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss. Epidemiology It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness. Pathology Ther...

Fat pad impingement syndromes of the knee

In fat pad impingement syndromes, the etiologies are different for each knee fat pad. In anterior suprapatellar fat pad impingement syndrome, the cause is usually due to either a developmental cause related to the anatomy of the extensor mechanism or may be related to abnormal mechanics. In thi...

Otopalatodigital syndrome type I

Otopalatodigital syndrome type I is a rare genetic disorder characterized by: 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 a member of ...

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...

Bannayan-Zonana syndrome

Bannayan-Zonana syndrome, also known as Bannayan-Riley-Ruvalcaba syndrome, is a rare hamartomatous disorder. Epidemiology Male predominance is reported 1. Clinical presentation Bannayan-Zonana syndrome is characterized by: macrocephaly multiple lipomas hemangiomas 1 Other findings that...

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...

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. Signs and symptoms result from compression of the median nerve in the upper f...

Hermansky-Pudlak syndrome

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

Heiner syndrome

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

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry (van Neck-Odelberg disease) is the characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal development, given that it is a common and usually asymptomatic finding. However, some cases are th...

Polysplenia syndrome

Polysplenia syndrome, also known as left isomerism, is a type of heterotaxy syndrome where there are multiple spleens congenitally as part of left-sided isomerism. Epidemiology Polysplenia is seen predominantly in female patients. It is usually diagnosed in childhood or adulthood, later than a...

Cavitating mesenteric lymph node syndrome

Cavitating mesenteric lymph node syndrome is seen in association with celiac disease and is characterized by the triad of: splenic atrophy low attenuation lymphadenopathy that sometimes contains fat-fluid levels villous atrophy Terminology Both "cavitating" and "cavitary" are seen in the l...

Cubital tunnel syndrome

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

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