Items tagged “syndrome”

259 results found
Article

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...
Article

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...
Article

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). Terminology Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named ...
Article

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...
Article

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...
Article

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 ...
Article

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...
Article

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...
Article

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...
Article

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...
Article

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...
Article

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...
Article

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...
Article

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 ...
Article

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...
Article

Foix-Alajouanine syndrome

Foix-Alajouanine syndrome refers to subacute, progressive myelopathy due to venous hypertension from a spinal dural arteriovenous fistula. Clinical presentation Patients have paraparesis (leg weakness), sensory loss in the legs, and loss of bowel and bladder sphincter control 1. Pathology Sp...
Article

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 ...
Article

Bogorad syndrome

Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. This phenomenon is also known as paroxysmal lacrimation or the gustolachrymal reflex. It is caused by a misdirection of the regenerating autonomic...
Article

Primary ciliary dyskinesia

Primary ciliary dyskinesia, also known as immotile cilia syndrome, is the result of a congenital defect in the ultrastructure of cilia that renders them incapable of normal movement. It is associated with a number of anatomic and functional abnormalities. Epidemiology Primary ciliary dyskinesi...
Article

Kartagener syndrome

Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyski...