Items tagged “syndrome”

Oscillopsia (also known as Dandy syndrome or jumbling of the panorama) is the inability to maintain horizon while walking, and for many is an extremely unpleasant sensation. Since our heads bob up and down while walking, the otolithic system controls eye movement to maintain a constant horizon ...

Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2: hypersensitivity to aspirin (and other NSAIDs) nasal polyposis / rhinosinusitis asthma Terminology Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation 1. Clinical presentation Following a period of normal develop...

Dyke-Davidoff-Masson syndrome is a condition characterized by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. It is characterized by: thickenin...

Eosinophilia myalgia syndrome (EMS) is a fatal neurological condition caused by ingestion of improperly manufactured L-tryptophan. Impurities and/or metabolites that block histamine degradation result in peripheral blood eosinophilia and myalgia.  In the brain, cortical and basal ganglia atroph...

Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:  congenital heart defects  atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctation upper limb...

Horner syndrome classically presents as an ipsilateral enophthalmos, blepharoptosis, pupillary miosis and facial anhidrosis due to disruption at some point of the oculosympathetic pathway. Ptosis is due to interruption of the sympathetic motor innervation of the superior tarsal muscle which is ...

Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown etiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies. Epidemiology The...

The WAGR syndrome or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor male pseudohermaphroditism progressive glomerulonephritis

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID). Epidemiology The preva...

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...

Feingold syndrome is characterized by the combination of: microcephaly digital abnormalities alimentary tract atresias especially esophageal atresia

18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...

Hutchinson syndrome is a seldom-used term to denote a syndromic presentation of children with craniocerebral neuroblastoma metastases. Terminology Unfortunately, there is a lack of consensus in the definition with two descriptions most commonly encountered in the literature: limping and irrit...

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3