Items tagged “syndrome”

Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of antiretroviral therapy (ART). Increasingly, however, it i...

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy coxa vara deformity or other dysplasia associated with progressive hip disease  pericardit...

Wunderlich syndrome is a rare condition in which spontaneous non-traumatic renal hemorrhage occurs into the subcapsular and perirenal spaces. Clinical presentation Wunderlich syndrome is clinically characterized by Lenk's triad: acute flank pain flank mass hypovolemic shock ​Mnemonic F: f...

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...

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...

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...

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...

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: ...

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 ...

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 ...

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...

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...

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...

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...

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...

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...

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...