Items tagged “syndrome”

274 results found
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Möbius syndrome

Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterized by the absence or underdevelopment of the nuclei of the abducens (CN VI) and facial nerve (CN VII). Epidemiology Möbius syndrome is rare with an estimated incidence of ~1 case per 1...
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Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders, and inherited tumor syndromes....
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PHACE syndrome

PHACE syndrome, also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: hemangiomas A: arterial anomalies C: coarctation of the aorta and ca...
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Pancoast syndrome

Pancoast syndrome (historically known as Ciuffini-Pancoast-Tobías syndrome, Hare syndrome or variation thereof) results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumor or, less commonly, from other tumors - or even non-malignant disease - involving the lung apex...
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Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. Patau syndrome along with Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days...
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Patulous tube syndrome

Patulous tube syndrome, or patulous dysfunction of the Eustachian tube, is a form of Eustachian tube dysfunction in which the tube remains abnormally open, allowing transmission of nasopharyngeal pressure to the middle ear. During strong inspiration (i.e 'sniff') transmits negative pressure to ...
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Subacromial impingement

Subacromial impingement is by far the most common form of shoulder impingement and occurs secondary to attrition between the coracoacromial arch and the underlying supraspinatus tendon or subacromial bursa, leading to tendinopathy and bursitis respectively. Pathology Etiology acromial shape ...
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Snapping hip syndrome

Snapping hip syndrome (also known as coxa saltans or dancer’s hip) refers to a situation where there is an audible snapping sound produced during motion of the hip.  Epidemiology Some reports suggest that up to 10% of population may have this to some degree 8. Pathology This condition is cla...
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Stewart-Treves syndrome

Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphedema 1. It was classically attributed to lymphedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in chronically lymphedematous regions of any cause 2.  The incidence is ...
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Straight back syndrome

Straight back syndrome refers to decreased thoracic kyphosis ("flattening") and decreased anteroposterior thoracic diameter, such that there is compression of cardiovascular or bronchial structures.  It should not be confused with flat back syndrome, which refers to decreased lumbar lordosis, o...
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Trotter syndrome

Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of: unilateral conductive hearing loss due to middle ear effusion trigeminal neuralgia due to perineural spread soft palate immobility
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Turcot syndrome

Turcot syndrome is one of the variations in polyposis syndromes. It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology Turcot syndro...
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Turner syndrome

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.  Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with...
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VACTERL association

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Pathology The acronym VACTERL derives from: V: vertebral an...
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Vascular syndromes

The are numerous vascular syndromes that can occur in the body. They include: Syndromes principally involving the vascular system Budd-Chiari syndrome celiac artery compression syndrome hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) hypothenar hammer syndrome Kasabach-M...
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Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth retardation failure to thrive thrombocytope...
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May-Thurner syndrome

May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2. Although both left and right CIVs lie deep to the right common iliac artery, the left...
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Primary progressive aphasia

Primary progressive aphasia is a group of neurodegenerative disorders mainly characterized by increasing language impairment. The group is clinically and pathologically heterogeneous and includes two clinical variants usually associated with frontotemporal lobar degeneration pathology and one cl...
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Growing teratoma syndrome

Growing teratoma syndrome is a rare complication after treatment for metastatic (or in the case of intracranial disease, primary) non-seminomatous germ cell tumors (NSGCT). It was first described in the pediatric population with treated germ cell neoplasms, and represents enlarging masses at th...
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Dandy-Walker malformation

Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterized by the triad of: hypoplasia of the vermis and cephalad rotation of the vermian remnant cystic dilatation of the fourth ventricle extending posteriorly  enlarged posterior fossa with torcular-lambdoi...