Items tagged “syndrome”
264 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...
Unable to process the form. Check for errors and try again.