Items tagged “syndrome”
274 results found
Fetal alcohol syndrome
Fetal alcohol syndrome (FAS) is a potential syndromic complication that can occur with maternal pre-natal alcohol exposure. It is also broadly categorized as fetal alcohol spectrum disorders (FASD) due to the fact that the fetus may not show all the features and the broad spectrum of effects on ...
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL) symptoms of hypoglycemia immediate relief of symptoms after the administration of IV glucose History and etymology The triad and also the Whipple procedure were both named a...
Alien limb syndrome
Alien limb syndrome is a rare neurological phenomenon in which a patient has the impression that their limb does not belong to them and is controlled by some external force 1. It can occur in a number of neurodegenerative diseases, typically those with cortical involvement, including: cortico...
Kufor-Rakeb syndrome is a neurodegenerative disease, considered a form of Mendelian parkinsonism. Epidemiology This syndrome has an autosomal recessive pattern of inheritance and was first described in an Arab consanguineous kindred. Clinical presentation Kufor-Rakeb syndrome has a juvenil...
Posterior cortical atrophy
Posterior cortical atrophy, also known as Benson syndrome, is an uncommon neurodegenerative disease typically affecting individuals in the sixth and seventh decades of life. It is characterized by dysfunction of the parietal, posterior temporal and occipital lobes, resulting in progressive aprax...
Bálint syndrome is characterized by: simultanagnosia (inability to perceive more than one object at a time) optic ataxia oculomotor apraxia Pathology It typically results from damage to the parieto-occipital regions, and has been associated with 1-3: corticobasal degeneration posterior co...
Subclavian steal syndrome
Published 08 Mar 2011
Radial tunnel syndrome
Radial tunnel syndrome is an entity that refers to entrapment (tunnel syndrome) of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5. Clinical presentation The syndrome is character...
Superior vena cava obstruction
Published 19 Mar 2011
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multisystem manifestations. Epidemiology The approximate worldwide incidence is approximately 1 in 800 live births 15. The...
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts. Epidemiology The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000. Clinical presentation It is characterized by a numb...
Fraser syndrome is an extremely rare congenital syndromic anomaly. Epidemiology The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths. Clinical spectrum The syndromic spectrum can comprise of: cryptophthalmos syndactyly: often cutaneous tracheal atre...
Meigs syndrome is defined as the presence of ascites and pleural effusion in association with a benign, usually solid ovarian tumor. In the vast majority (80-90%) of cases, the primary tumor is an ovarian fibroma. Other primary tumors include: ovarian fibrothecoma ovarian thecoma granulosa c...
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...
Mueller Weiss syndrome
Mueller Weiss syndrome, also known as Brailsford disease 3, refers to spontaneous multifactorial adult onset osteonecrosis of the tarsal navicular. This syndrome is distinct from Köhler disease, the osteonecrosis of the tarsal navicular bone that occurs in children. Epidemiology It occurs in a...
Fetal warfarin syndrome
Fetal warfarin syndrome (FWS) is a rare condition which can occur as a result of fetal exposure to maternal ingestion of warfarin during pregnancy. Clinical presentation Reported clinical features include: facial anomalies nasal bone hypoplasia nasal bridge depression skeletal anomalies s...
Congenital rubella syndrome
Congenital rubella syndrome is a spectrum of congenital abnormalities that result from primary maternal infection with the rubella virus. It falls under the TORCH group of infections. It is important to note that reinfection/reactivation of maternal infection has a significantly lower risk of f...
Published 12 Apr 2011
Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterized by cranio-facial anomalies, diarphagmatic defects and distal limb anomalies. Epidemiology Incidence is estimated at 1:15,000 live births. Clinical presentation T...
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome (LMPS) is a lethal subtype of the multiple pterygium syndrome. Epidemiology Associations polyhydramnios congenital cardiac anomalies 10 omphalocele 7 Pathology It is primarily characterized by the presence of pterygia (or wings) present in two or more bo...