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Spondylocostal dysostosis

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

Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects. Clinical presentation craniofacial cleft palate ocular coloboma prominent occiput lo...

Neuroferritinopathy

Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19. Epidemiology Neuroferritinopathy is a rare disorder first described in 2001 ...

Townes-Brocks syndrome

Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterized by renal, anal, ear, and thumb abnormalities. Clinical presentation The major manifestations of this syndrome include: renal: displaced or rotated kidneys, horseshoe kidney, p...

Waardenburg syndrome

Waardenburg syndrome is a rare neurocristopathy, with congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafn...

Internuclear ophthalmoplegia

Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other abducting eye, due to a lesion in the medial longitudinal fasciculus (MLF) ipsilateral to the eye unable to adduct. It is a common finding in multi...

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. Clinical presentation short neck short trunk with protruding abdomen normal IQ spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exag...

Babinski-Nageotte syndrome

Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Cestan-Chenais syndrome 1,2. Terminology In many texts this eponymous syn...

Nothnagel syndrome

Nothnagel syndrome is a rare midbrain syndrome that involves the tectum of the midbrain (quadrigeminal plate) and superior cerebellar peduncles 1-4,6. Clinical presentation Classically, the syndrome involves the oculomotor nerve fascicles and superior cerebellar peduncle, leading to ipsilatera...

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) (previously known as congenital hypoplastic anemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anemia that typically presents in the first few years of life, and usually only affects cells of the erythroid lineage ...

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastrointestinal stromal tumor (GIST). Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney co...

Cortical blindness syndrome

Cortical blindness is a condition resulting from lesions in the primary visual cortex (V1) characterized by visual impairment but with an intact anterior visual pathway (normal pupillary reflexes and fundal appearance). Clinical presentation The degree of visual impairment is related to the ex...

Raymond syndrome

Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature. Clinical presentation Clinically, 2 subtypes have been reported 1: classic type abducens ne...

Raynaud phenomenon

Raynaud phenomenon, also known as Raynaud syndrome, describes a localized vasculopathy whereby there is an exaggerated vascular response to cold temperature or emotional stresses. Terminology Raynaud phenomenon is classified as being either 'primary' or idiopathic, or 'secondary' to another un...

Post-thrombotic syndrome

Post-thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension. Epidemiology PTS is a common complication following extensive DVT of the limbs. Up to...

Post-pneumonectomy syndrome

Post-pneumonectomy syndrome is delayed complication of pneumonectomy characterized by respiratory compromise caused by severe mediastinal shift and counterclockwise rotation of the heart and great vessels. Epidemiology Rare delayed complication of pneumonectomy, which more commonly involves th...

Progeria

Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS), not to be confused with Hutchinson syndrome. Radiographic features Although the primary clinical manifestations of progeria include s...

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...

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 po...

Bing-Neel syndrome

Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS). Epidemiology The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...

Ophelia syndrome

Ophelia syndrome is the association of Hodgkin lymphoma with an autoimmune limbic encephalitis, as a result of anti-metabotropic glutamate receptor 5 antibodies (mGluR5) 1.

CEC syndrome

CEC syndrome, also known as Gobbi syndrome, refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1. Epidemiology Most c...

Hemoglobinopathies

A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae. Clinical presentation Clinical presentation varies, is related to hypoxia, and characteristically includes the fo...

Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features, it is often undiagnosed. Clinical presentation Injuries involving the teg...

Anti-GQ1b IgG antibody syndrome

Anti-GQ1b IgG antibody syndrome refers to a number of conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical spectrums. The conditions believed to represent various clinical manifestations of a common immunological disorder include 1: acute ophth...

Taussig-Bing anomaly

Taussig-Bing anomaly is a rare congenital heart malformation and is one of the variants of double outlet right ventricle. It consists of transposition of the aorta to the right ventricle and malposition of the pulmonary artery with subpulmonary ventricular septal defect. History and etymology ...

Febrile infection-related epilepsy syndrome (FIRES)

Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with new-onset refractory status epilepticus in a previously normal child (or less commonly adult) after a febrile illness. Terminology FIRES has received several names in the lit...

Cerebral hyperperfusion syndrome

Cerebral hyperperfusion syndrome is a rare complication seen after treatment of long-standing severe carotid stenosis by carotid endarterectomy or carotid artery stenting. It is believed to be the result of failure of normal cerebral blood flow autoregulation. Epidemiology Hyperperfusion occu...

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)

Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies. Radiographic features markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound. inte...

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...

FATCO syndrome

FATCO syndrome consists: FA: fibular aplasia TC: tibial campomelia O: oligosyndactyly It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance 1,2. Radiographic features Associated anomalies in FATCO syndrome include 3: anterolateral bowing of th...

Hemifacial microsomia

Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. The condition may vary from mild to severe. Goldenhar syndrome has been described as a variant of hemifacial microsomia, in which vertebral anomalies and epibulbar dermoids are present. Termi...

Shrinking lung syndrome

Shrinking lung syndrome refers to a rare thoracic complication of systemic lupus erythematosus (SLE) characterized by: unexplained dyspnea restrictive pattern on pulmonary function tests elevated hemidiaphragm Epidemiology As with SLE in general, it is thought to carry a increased female pr...

Sclerosteosis

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

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 have been ruled out. However, there are some cases in which lesion location and m...

Congenital pulmonary venolobar syndrome

Congenital pulmonary venolobar syndrome is a condition comprising a rare group of cardiac and pulmonary congenital abnormalities occurring variably in combination. The abnormalities include: anomalous pulmonary venous drainage particularly scimitar syndrome with hypogenetic right lung pulmona...

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterized by multifocal venous anomalies. Patients often have multiple soft blue skin lesions (blueberry muffin syndrome) associated with multiple bowel venous malformations, which could lead to lower gastr...

Focal dermal hypoplasia syndrome

Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome. Epidemiology A rare disorder that follows an X-linked dominant inheritance pattern. More commonly seen in males than females. Worldwide only 200-300 cas...

Camptocormia

Camptocormia, also known as bent spine syndrome or cyphose hystérique, is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when lying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case se...

Raghib syndrome

Raghib syndrome is a rare developmental complex. It consists of: persistence of the left superior vena cava coronary sinus ostial atresia atrial septal defect It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...

PPP syndrome

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

HIV-associated nephropathy

HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end-stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy. Epidemiology HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...

Norrie disease

Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss.

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 ...

Crowned dens syndrome

Crowned dens syndrome is an inflammatory condition resulting from crystal deposition in the cruciform and alar ligaments surrounding the dens, appearing as a radiopaque "crown" surrounding the top of the dens. It typically presents with pain and increased inflammatory markers. Terminology The...

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...

Gerstmann-Straussler-Scheinker disease

Gerstmann-Straussler-Scheinker disease is a very rare type of transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern. History and etymology It is named aft...

Dravet syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life. Clinical presentation The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures (includ...

Post ablation syndrome

Post-ablation syndrome occurs from 24 to 48 hours following ablation and lasts no longer than 10 days 1. It is believed to occur following cytokine release and tumor necrosis, causing patient fever and flu-like symptoms. If symptoms persist following 10 days after the procedure, alternate diagn...

Stevens Johnson syndrome

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

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...

Alpha-thalassemia intellectual disability syndrome X-linked (ATRX) gene (tumor marker)

Alpha-thalassemia intellectual disability syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX-wildtype) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion, and p53 expression 1,2. ATRX a...

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...

4D syndrome

4D syndrome is a term used to describe a manifestation of syndromic glucagonoma, a type of pancreatic endocrine tumor. D: dermatitis 2 necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions oral rashes (angular stomatitis, cheilitis) tend to re...

Pickwickian syndrome

Pickwickian syndrome, or obesity hypoventilation syndrome (OHS), comprises the triad of obesity (BMI ≥30 kg/m2), daytime hypoventilation (awake hypercapnia and hypoxemia), and sleep-disordered breathing in the absence of alternative explanations (e.g. severe parenchymal lung disease, mechanical ...

Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome ( also known as Raveenthiran syndrome ) is the association of Spigelian hernias and cryptorchidism in children. Pathology It is reported that ~50% (range 28-75%) range of pediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2. Al...

Trousseau syndrome

Trousseau syndrome is an inconsistently defined entity which broadly represents the association between thromboembolism and malignancy, often prior to or concomitantly with the diagnosis of the underlying malignancy 1. The syndrome has been variably defined to include entities such as migratory...

Drug rash with eosinophilia and systemic symptoms syndrome

The drug rash with eosinophilia and systemic symptoms (DRESS) syndrome typically manifests as a skin rash, fever, lymph nodal enlargement with variable internal organ involvement, and represents a hypersensitivity reaction to medication. Clinical presentation Clinical presentation can be vari...

Pinch off syndrome

Pinch-off syndrome is a spontaneous catheter fracture, which is seen as a complication of subclavian venous catheterization. Epidemiology It is a known complication of central venous catheterization with a much-reduced incidence in current practice and is generally considered to be rare. Radi...

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...

Hyperimmunoglobulin IgE syndrome

Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterized by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...

Parkinson-plus syndrome

Parkinson-plus syndromes are a loose group of neurodegenerative disorders that are characterized by features of Parkinson disease but with other neurological symptoms/signs. They have a poor response to levodopa, and mostly have fairly characteristic neuroimaging features. Conditions included ...

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...

Myoclonic epilepsy with red ragged fibers (MERRF)

Myoclonic epilepsy with red ragged fibers (MERRF) is a rare multisystem mitochondrial disorder. Clinical presentation Patients usually present in late adolescence or early adulthood with 1-3 myoclonus epilepsy cerebellar ataxia intellectual disability vision and/or hearing loss cardiomyo...

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...

Trochanteric syndrome

Trochanteric syndrome (greater trochanteric pain syndrome) refers to pain that originates from the lateral hip region. Terminology Bursitis is not necessarily present and the often-used term trochanteric bursitis is therefore not always appropriate 1. Epidemiology Trochanteric syndrome most ...

Acute coronary syndrome

Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are: ST elevation myocardial infarction (STEMI) non-ST elevation myocardial infarction (NSTEMI) unstable an...

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 ...

Ischiofemoral impingement

Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur. Clinical presentation Patients with ischiofemoral impingement present with chronic pain in the groin and/or buttock, without a history of traumatic injury. Pa...

Niacin deficiency

Niacin (vitamin B3) deficiency, also known as pellagra, is a multisystem disease which involves the skin, gastrointestinal tract and central nervous system. Epidemiology It use to be widespread until the early twenty century, but after fortification of flour with niacin it was practically era...

Excessive lateral pressure syndrome

Excessive lateral pressure syndrome or lateral patellar compression syndrome is the abnormal lateral tilt of the patella without lateral translation 1 and is considered one of the relatively common causes of anterior knee pain. Epidemiology Excessive lateral pressure syndrome can affect both a...

Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterized by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia. Epidemiology There have only been 35 reported c...

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...

Thyrotoxicosis

Thyrotoxicosis is a hypermetabolic clinical syndrome caused by a pathological excess of circulating free T4 (thyroxine) and/or free T3 (tri-iodothyronine). Terminology Although commonly done, thyrotoxicosis should not be confused with, nor is it synonymous with hyperthyroidism. The latter term...

Eosinophilic endocarditis

Eosinophilic endocarditis, also known as Löffler (Loeffler) endocarditis, is one of the cardiac manifestations of idiopathic hypereosinophilic syndrome. It is also considered a form of cardiomyopathy. Epidemiology There is limited information on the incidence of eosinophilic endocarditis. The ...

Good syndrome

Good syndrome is a rare paraneoplastic syndrome in which a thymoma causes hypogammaglobulinemia and humoral immunodeficiency. It has been estimated to occur in 0.2%–2% of thymomas 2. thymoma low to absent B-cells T-cell mediated defects CD4 T-cell lymphopenia inverted CD4/CD8+ T-cell ratio ...

PTEN-related disease

PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include: Bannayan-Riley-Ruvalcaba COLD syndrome Cowden syndrome Lhermitte-Duclos disease Those not f...

Medial patellar plica syndrome

Medial patellar plica syndrome are symptoms that can be associated with the presence of synovial plicae of the knee (most commonly the 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 patients (1s...

Fetal head sparing theory

The fetal head sparing theory is one that underpins asymmetrical intra-uterine growth restriction, where the difference between normal head circumference and decreased abdominal circumference is attributed to the fetus's ability to preferentially supply the cerebral, coronary, adrenal and spleni...

Septic-embolic encephalitis

Septic-embolic encephalitis, also known as septic-embolic brain abscess, refers to a focal or diffuse brain infection, ischemic and hemorrhagic damages following infective thromboembolism from any part of the body. It is usually caused by bacterial infections from endocarditis. Terminology Se...

Neonatal encephalopathy

Neonatal encephalopathy is a clinical syndrome referring to signs and symptoms of abnormal neurological function in the first few days of life in a neonate born at or beyond 35 weeks of gestation. It is described as decreased level of consciousness, difficulty with initiating and maintaining re...

Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis. There are two forms of this syndrom...

Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic thoracic, abdominal and/or vertebral column injuries associated with three-point seatbelts 1,2: bowel perforation mesenteric tear sternal fracture lumbar spine fracture female breast trauma

Heyde syndrome

Heyde syndrome is an association between aortic valve stenosis and gastrointestinal hemorrhage. The etiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related d...

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...

Chronic hereditary lymphedema

Chronic hereditary lymphedema (also known as Milroy disease) is a condition characterized by lower limb lymphedema. Patients typically present with pedal edema at or before birth or soon after. Occasionally, it develops later in life. Clinical presentation The commonest presentation is bilater...

Solitary rectal ulcer syndrome

Solitary rectal ulcer syndrome (SRUS) is a chronic, benign disorder characterized by the presence of an abnormality of the rectum in persons who have a long history of straining during defecation. It is a misnomer because only a third of patients have a solitary ulcer, and many have no ulcers at...

Paradoxical brain herniation

Paradoxical brain herniation, also known as sinking skin flap syndrome or syndrome of the trephined, is a rare and potentially fatal complication of decompressive craniectomy. Clinical presentation May range from asymptomatic or mono symptomatic state to acute neurological deterioration. Pat...

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a systemic condition characterized by the degeneration of elastic fibers. It has multiorgan manifestations. Epidemiology Its prevalence is estimated to be around 1 in 25,000 9. Clinical presentation Patients may ...

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...

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) ...

≤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...

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...

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