Items tagged “syndrome”

259 results found
Article

SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In addition to these there can be numerous associated minor features whi...
Article

Sinus tarsi syndrome

Sinus tarsi syndrome is the clinical syndrome of pain and tenderness of the lateral side of the hindfoot, between the ankle and the heel. Imaging often demonstrates the ligaments and soft tissues in the sinus tarsi are injured. Epidemiology Sinus tarsi syndrome has been described in dancers, v...
Article

Sampson syndrome

Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments. Clinical presentation The patient may present with non-specific abdominal pain. Radiographic features At laparoscopy, they are typi...
Article

Femur fibula ulna syndrome

Femur fibula ulna (FFU) syndrome is a rare congenital non-lethal anomaly which is classically characterized by unilateral limb defects of the femur and fibula of one limb followed by a contralateral defect in the ulna 2. There have however been several variations described including bilateral in...
Article

Vascular compression disorders

Vascular compression disorders are numerous and can be divided into those cases where a vascular structure is the "compress-er" or the "compress-ee" . Some conditions fall into both categories, where one vessel compresses another.  Compression of a vascular structure  adductor canal syndrome: ...
Article

Lane-Hamilton syndrome

Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1. Epidemiology It is typically seen in children under the age of 15 but can occasionally be seen in adults. History and etymology It was originally described by D ...
Article

Ectrodactyly-ectrodermal dysplasia-clefting syndrome

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of  ectrodactyly  +/- syndactyly 1 +/- polydactyly 5 ectrodermal dysplasia facial clefts: cleft lip and/or palate Pathology Genetics ...
Article

Central cord syndrome

Central cord syndrome is the most common type of incomplete spinal cord syndrome, usually, the result of trauma, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of damage to the central portion spinal cord and in the setting of trauma most common...
Article

Sotos syndrome

Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...
Case

Sotos syndrome

  Diagnosis probable
Prashant Gupta
Published 12 May 2012
68% complete
MRI
Article

Sézary syndrome

Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma.  Clinical presentation It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of malignant lymphocytes in the blood. History and etymology It is named after Albert...
Case

Peutz-Jeghers syndrome

  Diagnosis almost certain
Chris O'Donnell
Published 16 Jul 2012
65% complete
CT
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. Clinical presentation Affected patients usually appear nor...
Article

Morvan syndrome

Morvan syndrome, also known as Morvan fibrillary chorea, is a rare syndrome thought to be either paraneoplastic or autoimmune in origin. Clinical presentation It is characterized by: neuromyotonia pain hyperhydrosis weight loss severe insomnia hallucinations Pathology Voltage gated pot...
Article

Midface anomalies in children

Midface anomalies (craniofacial syndromes) in children include Apert syndrome Crouzon syndrome Pfeiffer syndrome Treacher Collins syndrome Roberts syndrome Coffin-Lowry syndrome Saethre-Chotzen syndrome Noack syndrome Jackson-Weiss syndrome Carpenter syndrome Lowry syndrome Fibular a...
Article

Polysplenia syndrome

Polysplenia syndrome, also known as left isomerism, is a type of heterotaxy syndrome where there are multiple spleens congenitally as part of left-sided isomerism. Epidemiology Polysplenia is seen predominantly in female patients. It is usually diagnosed in childhood or adulthood, later than a...
Case

Median arcuate ligament syndrome

  Diagnosis almost certain
Mohammad Taghi Niknejad
Published 08 Feb 2013
83% complete
CT
Article

Median nerve entrapment syndromes

Entrapment syndromes of the median nerve represent the median nerve being compressed at a number of distinct sites leading to a number of distinct clinical syndromes.  Entrapment is but one of the gamut of pathologies causing neuropathy, albeit one of the more common etiologies and, more import...
Article

Anterior interosseous nerve syndrome

Anterior interosseous nerve syndrome (AINS), also known as Kiloh-Nevin syndrome, is one of three common median nerve entrapment syndromes, the other two being pronator teres syndrome and the far more common carpal tunnel syndrome. Epidemiology Anterior interosseous nerve syndrome is a rare ent...
Article

Pepper syndrome

Pepper syndrome is a term not readily used in day-to-day practice and usually refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma).  Cohen syndrome, a genetic disorder, is sometimes referred to a...