Items tagged “syndrome”

274 results found
Article

Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. Epidemiology The estimated incidence is 1 case per 65-80,000 pregnancies. Risk factors increased paternal age has been proposed 6 Associations CNS ...
Case

Apert syndrome

 Diagnosis possible
Dr Hani Makky Al Salam
Published 02 Aug 2010
29% complete
X-ray
Case

Apert syndrome with syndactyly

 Diagnosis certain
Dr Andrew Dixon
Published 02 Aug 2010
92% complete
X-rayCT
Article

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...
Case

PHACE syndrome

 Diagnosis almost certain
Dr Andrew Dixon
Published 13 Aug 2010
68% complete
MRI
Case

Trichorhinophalangeal syndrome (Langer-Giedion syndrome)

Cone-shaped epiph...
 Diagnosis almost certain
Dr Hani Makky Al Salam
Published 23 Aug 2010
47% complete
X-ray
Article

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...
Article

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Case

Holt Oram syndrome

 Diagnosis certain
Dr Andrew Dixon
Published 30 Aug 2010
88% complete
X-ray
Article

Bickerstaff encephalitis

Bickerstaff encephalitis is a rare immune-mediated condition believed to be one of a number of conditions sharing a similar immunological mechanism, and collectively termed anti-GQ1b IgG antibody syndrome.   Clinical presentation Bickerstaff encephalitis is often seen following varicella zoste...
Article

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...
Article

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-age women that is clinically characterized by the triad of acute or subacute encephalopathy, ...
Article

SMART syndrome

SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy, 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 individuals ...
Article

Posterior ankle impingement syndrome

Posterior ankle impingement (PAI) syndrome is one of the impingement syndromes involving the ankle. It is classically described in ballet dancers. Epidemiology It is usually a unilateral phenomenon. Bilateral posterior ankle impingement syndrome has been described but is rare 5. Clinical pres...
Article

Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), also known as Müllerian agenesis, is a congenital anomaly characterized by vaginal agenesis associated with, in the majority of cases, a spectrum of other genitourinary tract abnormalities. MRKH syndrome belongs to class I Mullerian duct anomalies....
Article

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...
Case

Atrophic polycystic kidneys and Alport syndrome

 Diagnosis certain
Assoc Prof Frank Gaillard
Published 17 Oct 2010
92% complete
CT
Article

Alport syndrome

Alport syndrome is an X-linked dominant 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: most common ...
Article

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...
Article

Fat embolism syndrome

Fat embolism syndrome 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 petechial...