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Interstitial cystitis

Interstitial cystitis (or painful bladder syndrome) refers to an inflammatory condition affecting the bladder. It is usually defined as urinary bladder pain and irritative symptoms of more than six months' duration. It usually represents a diagnosis of exclusion. Traditionally, it has been defin...

Irritable bowel syndrome

Irritable bowel syndrome (IBS) is the commonest of the functional gastrointestinal disorders (FGIDs). Its key presenting features are recurrent abdominal pain and change in bowel habit (diarrhea and/or constipation), which may be severe, such that for an individual, there may be a marked negativ...

Ischiofemoral impingement

Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur. Clinical presentation Ischiofemoral impingement is a rare cause of buttock pain, groin pain, or a snapping hip 6,7. Epidemiology Females are more affected t...

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 ...

Jacobsen syndrome

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

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 axillary an...

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...

Johanson-Blizzard syndrome

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

Juberg-Hayward syndrome

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

Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis is a rare autosomal recessive syndrome outlined by painful, abnormal, often deforming deposits of hyalinized fibrous material in the extracellular matrix of the skin, subcutaneous soft tissues and gums. It is listed under fibroblastic and myofibroblastic tumors in t...

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...

Kabuki syndrome

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

Kallmann syndrome

Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, a similar syndrome is referred to as normosmic idiopathic hypogonadotropic hypogonadism. Epidemiology It is a rare disorder with an estimate...

Kartagener syndrome

Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance. Epidemiology The prevalence of primary ciliary dyski...

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...

Keutel syndrome

Keutel syndrome is an extremely rare inherited condition characterized by cartilage calcification which include ears nose larynx trachea - with resultant tracheobronchial stenosis ribs pulmonary arterial stenoses brachytelephalangism (short fingers and nails that resemble drumsticks) fa...

Klinefelter syndrome

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

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,...

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...

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) ...

Lacunar stroke syndrome

Lacunar stroke syndrome (LACS) is a description of the clinical syndrome that results from a lacunar infarct. Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressively, or in a fluctuating manner (e.g. the capsular warnin...

Lady Windermere syndrome

Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...

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...

Lane-Hamilton syndrome

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

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...

Large vestibular aqueduct syndrome

Large vestibular aqueduct syndrome (LVAS), also known as enlarged vestibular aqueduct (EVA) or large endolymphatic sac anomaly (LESA), refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct due to enlargement of the endolymphatic duct. It is thought ...

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...

Lateral medullary syndrome

Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by an acute ischemic infarct of the lateral medulla oblongata. This is most commonly due to occlusion of the intracranial portion of the vertebral artery followed by PICA and its branches 1-3. Epidemio...

Lateral meningocele syndrome

Lateral meningocele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningoceles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and ne...

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 picture1,2,4: ipsilateral limb ataxia: cerebellar tracts...

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...

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...

Legius syndrome

Legius syndrome is characterized by multiple café-au-lait spots, with or without freckles and macrocephaly. Epidemiology More than 200 cases were reported between 2007 and 2013 1,3. Although rare, it is estimated that up to 2% of patients fulfilling diagnostic criteria for neurofibromatosis-1...

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...

Lemierre syndrome

Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess. Epidemio...

Lemmel syndrome

Lemmel syndrome is defined as obstructive jaundice caused by a periampullary duodenal diverticulum compressing the intrapancreatic common bile duct with resultant bile duct dilatation. Clinical presentation Patients may present with recurrent episodes of jaundice, pancreatitis and/or cholangit...

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological/ behavioral problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern. Epidemiology It often appears between the 2nd and 6th years ...

Leontiasis ossea

Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...

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...

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is a rare X-linked genetic disease caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Epidemiology Affects 1 per 380,000 individuals, which are nearly all male given the X-linked inheritance 1. Clinical presentation hyperuricemia-...

Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterized by the association of omphalocele and cleft palate. Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1. History and etymolog...

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy with calcification and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcification and edematous cysts. Epidemiology Leukoencephalopathy with calcification and cysts is an extremely rare condition, with ...

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...

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...

Little league shoulder

Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers. Epidemiology Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...

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 ...

Löffler syndrome

Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood. Pathology Etiology The cause is not usually i...

Löfgren syndrome

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

Lowe syndrome

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

Low phospholipid-associated cholelithiasis syndrome

Low phospholipid-associated cholelithiasis (LPAC) syndrome is one of the syndromes associated with ABCB4/MDR3 mutation. Characteristics of this syndrome include 1,2: intrahepatic microlithiasis/sludge symptomatic cholesterol stones with early onset (<40 years) recurrent symptoms post cholecys...

LUMBAR syndrome

LUMBAR, PELVIS, or SACRAL syndrome is the association of infantile hemangiomas in the lower body with other extracutaneous congenital abnormalities in the region. The syndrome may be incomplete. Pathology LUMBAR 1 lower body hemangiomas urogenital anomalies and ulceration myelopathy bony...

Lutembacher syndrome

Lutembacher syndrome refers to the association of an atrial septal defect (ASD) with mitral stenosis. Both the defects can be either congenital or acquired. History and etymology It is named after Rene Lutembacher 4.

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 ...

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...

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...

Manganism

Manganism (also known as acquired hypermanganesemia) is the clinical syndrome resulting from acute or chronic overexposure to the transition metal manganese, one of the essential trace elements. It primarily manifests as parkinsonism and is frequently clinically, radiologically and histopatholog...

Man-in-the-barrel syndrome

Man-in-the-barrel syndrome is a neurological syndrome characterized by bilateral brachial muscular weakness. Pathology This syndrome is usually caused by bilateral cerebral lesions in the border zone between the anterior and middle cerebral arteries. Etiology The syndrome has been described ...

Marchiafava-Bignami disease

Marchiafava-Bignami disease (MBD) is a rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves the corpus callosum with necrosis and demyelination. Epidemiology MBD is in most instances seen in chronic alcoholics, and as such the epidem...

Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded 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 aro...

Marine-Lenhart syndrome

Marine-Lenhart syndrome refers to a variant of Graves disease where there are coexistent autonomous thyroid nodules. It is better described as Graves disease with coexistent multinodular goiter or nodular Graves disease 1. Epidemiology The syndrome is rare with reported prevalence somewhere b...

Marshall-Smith syndrome

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

May-Thurner syndrome

May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2. Although both left and right CIVs lie deep to the right common iliac artery, the left...

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...

McCune-Albright syndrome

McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) 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 'café au lai...

McKusick Kaufman syndrome

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

Meckel-Gruber syndrome

Meckel-Gruber syndrome (MGS) is classically characterized by the triad of: renal cystic dysplasia: multiple renal cysts (present most cases) occipital encephalocoele/holoprosencephaly (~70%) postaxial polydactyly: usually hexadactyly (~65%) Additional hepatic developmental defects and hepati...

Meconium plug syndrome

Meconium plug syndrome refers to a functional colonic obstruction in a newborn due to an obstructing meconium plug. It is usually transient and affects the left colon with meconium plugging the bowel distal to this segment. In this situation, it is also termed the small left colon syndrome. Pat...

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 sy...

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...

Medial tibial stress syndrome

Medial tibial stress syndrome (MTSS), also known as shin splints, describes a spectrum of exercise-induced stress injury that occurs at the medial tibial mid-to-distal shaft. This term is often incorrectly used to indicate any type of tibial stress injury but more correctly refers to the earlier...

Megacystis microcolon intestinal hypoperistalsis syndrome

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

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...

Megalocornea

Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3. Epidemiology Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with mult...

MEGDEL syndrome

MEGDEL syndrome (3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a recently described syndrome with infantile onset. These patients typically initially receive a diagnosis of Leigh syndrome, based on clinical and biochemical features and an abnormal basal ganglia s...

Mendelson syndrome

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

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...

Mercedes Benz craniosynostosis syndrome

Mercedes Benz pattern craniosynostosis also known as pure bilateral lambdoid and sagittal synostosis (BLSS) is a pattern of craniosynostosis. 1-2 Epidemiology The estimated incidence is at around 0.3 - 0.7 % 3. Clinical presentation Cognitive function is grossly normal. Dolichocephalic head...

Metabolic syndrome

The metabolic syndrome, also known as syndrome X, is a set of five conditions, which together increase a patient's risk of developing cardiovascular disease 1. Clinical presentation There are five central components of metabolic syndrome: hyperinsulinemia impaired glucose tolerance dyslipid...

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...

Metronidazole central nervous system toxicity

Metronidazole, which is used to treat a wide variety of bacterial and protozoal infections can, in exceedingly rare cases, lead to central nervous system toxicity. Epidemiology In a review of the case literature 1, affected patients range widely in age, with the peak incidence occurring in the...

Midaortic syndrome

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

Middle East respiratory syndrome coronavirus (MERS-CoV) infection

Middle East respiratory syndrome coronavirus (MERS-CoV) infection is an uncommon coronavirus infection (<1000 cases) with the first case reported in Saudi Arabia in 2012. It most commonly causes pneumonia and acute renal failure with a mortality rate of ~40%. MERS-CoV raises concern because of i...

Mikulicz syndrome

Mikulicz syndrome was considered a form of Sjögren syndrome (type 1), however, more recently it is considered to be on the IgG4-related disease spectrum. Terminology It may also be referred to by numerous other eponyms as well as the rather verbose: sicca syndrome without a connective tissue ...

Milk-alkali syndrome

Milk-alkali syndrome is the combination of: hypercalcemia renal failure metabolic alkalosis It is due to a large amount of calcium and alkali being ingested (e.g. milk and antacids for peptic ulcer disease treatment or calcium carbonate for osteoporosis). It is a cause of medullary nephrocal...

Millard-Gubler syndrome

Millard-Gubler syndrome, also known as ventral pontine syndrome, is one of the crossed paralysis syndromes, which are characterized by cranial nerves VI and VII palsies with contralateral body motor or sensory disturbances 1-3. Clinical presentation ipsilateral facial and contralateral body he...

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...

Mirizzi syndrome

Mirizzi syndrome refers to an uncommon phenomenon that results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other hepat...

Möbius syndrome

Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterized by the absence or underdevelopment of the nuclei of the abducens (CN VI) and facial nerve (CN VII). Epidemiology Möbius syndrome is rare with an estimated incidence of ~1 case per 1...

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 ...

Morning glory syndrome (eye)

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...

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...

Morvan syndrome

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

Moyamoya syndrome

Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease. These conditions include 1-4 : vessel wall abnormalities athe...

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