Items tagged “syndrome”

274 results found
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Twin-to-twin transfusion syndrome

Twin to twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic (either MCDA or MCMA) twin pregnancy.  Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies giving an estimated prevalence of ~1:2000 of all pregnancie...
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Septo-optic dysplasia

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterized by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction. It is best thought of as being part of the holoprosencephaly spectrum (se...
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Melkersson-Rosenthal syndrome

Melkersson-Rosenthal syndrome (MRS), also known as cheilitis granulomatosa or Miescher-Melkersson-Rosenthal Syndrome, is a rare condition of unknown etiology characterized by: granulomatous inflammation of the face and lips (non-caseating) facial nerve (CN VII) paralysis (involvement of crania...
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Eagle syndrome

Eagle syndrome refers to symptomatic elongation of the styloid process or calcified stylohyoid ligament 1,2. It is often bilateral. In most cases, the cause is unknown; however, the condition is sometimes associated with disorders causing heterotopic calcification such as abnormal calcium/phosph...
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Ruvalcaba syndrome

Ruvalcaba syndrome (also known as Ruvalcaba-Myhre-Smith syndrome) is one of a group of disorders related to the congenital skeletal disturbance. It is characterized by: macrocephaly hypoplastic genitalia intellectual (not invariably) and physical disability short stature peculiar facies mi...
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Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases). Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after J...
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Mondini malformation

Mondini malformation is a historical term used to describe an incomplete partition type II anomaly with large vestibular aqueduct. Terminology The term is often used inappropriately to describe any cochlear abnormality, rather than a specific type of cochlear hypoplasia. Thus, most would favor...
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Bartter syndrome

Bartter syndrome is a rare inherited renal disorder. Pathology Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension/normotension elevated plasma renin elevated aldosterone antenatal polyhydramnios Classific...
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Liddle syndrome

Liddle's syndrome is an autosomal dominant condition which inhibits the normal degradation of the ENaC sodium channel, resulting in findings that mimic Conn's syndrome (hyperaldosteronism); hypernatremia, hypokalemia and elevated serum bicarbonate. Typically patients are asymptomatic other than ...
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Gorlin-Goltz syndrome

Gorlin-Goltz syndrome (also known as the basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, or just Gorlin syndrome) is a rare phakomatosis characterized by multiple odontogenic keratocysts (OKC), multiple basal cell carcinomas (BCC) and other abnormalities. Epidemiology The cond...
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Kallmann syndrome

Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, a similar syndrome is referred to as normosmic idiopathic hypogonadotropic hypogonadism.  Epidemiology It is a rare disorder with an estimate...
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Robin sequence

Robin sequence, also called Pierre Robin syndrome or Pierre Robin anamaloid, is a congenital condition characterized by facial abnormalities. Its etiology has no genetic base, but rather, is reliant on a sequence of events, one following the other. Terminology Robin sequence is the preferred t...
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Top of the basilar syndrome

Top of the basilar syndrome, also known as rostral brainstem infarction, occurs when there is thromboembolic occlusion of the top of the basilar artery. This results in bilateral thalamic ischemia due to occlusion of perforator vessels. Clinical presentation Clinically, top of the basilar synd...
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Shone syndrome

Shone syndrome, also known as Shone complex, is a rare syndrome characterized by left-sided, obstructive congenital heart defects. Epidemiology Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1. Clinical presentation Patients, usually ne...
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Leontiasis ossea

Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...
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Syndrome of the trigone

Syndrome of the trigone occurs when intracranial tumors that arise in the trigone of the lateral ventricle present with a distinctive constellation of signs and symptoms due to compression of the posterior limb of the internal capsule and the adjacent white matter of the parietal and posterior f...
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Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome​ consists of the triad of: hyperostosis frontalis interna obesity excessive hair growth (virilism/hirsutism) and is also associated with neuropsychiatric conditions. The cause is unclear.  History and etymology It was first described in 1765 by the Italian ...
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Enchondromatosis

Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromato...
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Foix-Alajouanine syndrome

Foix-Alajouanine syndrome refers to presentation of spinal AVMs with progressive neurological deterioration. Initially, patients have a spastic paraplegia which progresses to flaccidity, loss of sphincter control and ascending sensory level. It is thought to be due to venous hypertension.
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Muir-Torre syndrome

Muir-Torre syndrome is a rare variant of hereditary nonpolyposis colorectal cancer (HNPCC),  characterized by sebaceous neoplasms (e.g adenoma, epithelioma or carcinoma) and keratoacanthocytomas as well as at least one internal malignancy: gastrointestinal malignancies (most common of internal ...