Items tagged “syndrome”
274 results found
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...
Sulcal artery syndrome
Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...
Chinese paralytic syndrome
Chinese paralytic syndrome also known as acute motor axonal neuropathy (AMAN) is characterized as progressive symmetrical flaccid paralysis with areflexia. It is a pure motor axonopathy and is a variant of Guillain-Barré syndrome.
Superior semicircular canal dehiscence syndrome
Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC). Notably, this CT finding has also been described in ~10% of individuals w...
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency, is an inborn error of cholesterol synthesis. Epidemiology The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries. Associations Hirschsprung disease C...
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease). Epidemiology There is a recognized male predominance. Clinical presentation Ehlers-Danlos syndrome clinically manifests with skin hyperelasticity and fragility joint hypermo...
Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype. Clinical presentation The clinical spectrum can be quite wide and includes: dermal / cutaneous severe skin restriction ichthyosis decreased fetal movement marked intrauterine...
Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at 1 in 3000-5000...
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability rena...
The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal. Epidemiology The estimated incidence is at ~1 in 12,000 births. Clinical presentation Features include 2,4:...
Seckel syndrome is an autosomal recessive congenital dwarfing disorder. Epidemiology The estimated incidence is ~1:10,000. There is no recognized gender predilection. Clinical presentation It is clinically characterized by many features including: intrauterine growth restriction postnatal ...
Hughes-Stovin syndrome (HSS) is a vasculitis that predominantly affects large vessels. The disease bears some resemblance to Behçet disease. Epidemiology Hughes-Stovin syndrome is very rare 7. It occurs predominantly between the 2nd to 4th decades. There is a recognized male predilection. Cl...
Goodpasture syndrome, also referred as antiglomerular basement membrane (anti-GBM) antibody disease, is an autoimmune disease characterized by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is a type of pulmonary-renal syndrome. Goodpasture syndrome i...
HELLP syndrome is a pregnancy-related condition and is an abbreviation for: haemolysis elevated liver enzymes and low platelets It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia. Epidemiology The estimated inciden...
Opsomyoclonus (OMS), also known as dancing eyes-dancing feet syndrome and opsoclonus-myoclonus syndrome, is a clinical syndrome which has a strong association with neuroblastoma. Clinical presentation The “opso-“ refers to the presence of intermittent jerky eye movements (dancing eyes) and the...
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 ...
Carpal tunnel syndrome
Carpal tunnel syndrome results from compression of the median nerve (tunnel syndrome) 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 syndro...
Waterhouse-Friderichsen syndrome (also known as purpura fulminans 9 or hemorrhagic adrenalitis 10) is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia. Pathology Waterhouse-Friderichsen syndrome is due to septicemia and common...
Published 31 Dec 2010
The OEIS complex refers to the combined occurrence of: an omphalocele bladder exstrophy / cloacal exstrophy an imperforate anus and spinal anomalies: e.g kyphoscoliosis hemivertebrae Epidemiology The estimated occurrence is at around 1-200,000 to 400,000 live births 1,8. Pathology Pos...