Items tagged “syndrome”

259 results found

Susac syndrome

Susac syndrome, also known as retinocochleocerebral vasculopathy or SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-aged women that is clinically characterized by the triad of acute or subacute encephalopathy,...

SMART syndrome

SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy syndrome, is an uncommon delayed complication of cerebral radiation therapy. It is probably a more severe manifestation of peri-ictal pseudoprogression (PIPG).  Epidemiology SMART syndrome is encountered in ind...

Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), also known as Müllerian aplasia, is a congenital anomaly characterized by vaginal and uterine aplasia or agenesis 9. It is usually also associated with a spectrum of other genitourinary tract abnormalities. MRKH syndrome belongs to class I Mulleria...

Urethral diverticulum

Urethral diverticula, or urethroceles, are focal outpouchings of the urethra. They should not be confused with a ureterocele of the distal ureter. Epidemiology Urethral diverticula occur far more frequently in women than in men and are estimated to occur in 1-6% of women, especially those with...

Atrophic polycystic kidneys and Alport syndrome

  Diagnosis certain
Frank Gaillard
Published 17 Oct 2010
92% complete

Alport syndrome

Alport syndrome is a hereditary disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions. Clinical presentation hematuria sensorineural hearing loss: typically high frequency 2 ocular abnormalities anterior lenticonus which may result in c...

Noonan syndrome

Noonan syndrome (NS) is a genetically and phenotypically heterogeneous non-aneuploidic congenital RASopathy. Affected individuals can bear some clinical features similar to that of Turner syndrome.  Epidemiology The estimated incidence is at ~1 in 1000-2500 10. As individuals have normal numbe...

Fat embolism syndrome

Fat embolism syndrome (FES) is an uncommon clinical manifestation of a minority of individuals who have fat emboli. It is the result of innumerable small fat emboli leading to a multisystem dysfunction, classically characterized by the triad of: respiratory distress cerebral abnormalities pet...

Lateral medullary syndrome

Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by acute ischemia or infarction of the lateral medulla oblongata due to occlusion of the intracranial portion of the vertebral artery, PICA or its branches 1-3.  Epidemiology 20% of ischemic strokes oc...

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...

Acute motor axonal neuropathy

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. Terminology In 1991, a short-lived epidemic of Guillain-Barré syndrome (GBS) was seen in Northern China....

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

Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency or RSH syndrome, 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 Hirschs...

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease). Epidemiology The combined prevalence for all types of Ehlers-Danlos syndrome is estimated to be at least 1 of every 5000 individuals. There is no significant gender predominance...

Neu-Laxova syndrome

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

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

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...

Pena-Shokeir syndrome

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

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

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...