Items tagged “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 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 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 an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance. Epidemiology Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...

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...

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...

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 or <2.7 mmol/L) symptoms of hypoglycemia immediate relief of symptoms after the administration of intravenous glucose History and etymology The triad and also the Whipple pro...

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, also known as Parkinson disease-9 (PARK9), is a rare neurodegenerative disease, considered a form of Mendelian parkinsonism.  Epidemiology This syndrome is very rare and was first described in an Arab consanguineous kindred 4. It has since been described in select familie...

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 which results in progressive a...