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Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts: bowel perforation mesenteric tear sternal fracture lumbar spine fracture

Seckel syndrome

Seckel syndrome is an autosomal recessive congenital dwarfing disorder. Epidemiology The estimated incidence is ~1:10,000. There is no recognized gender predilection. Clinical presentation It is clinically characterized by many features including: intrauterine growth restriction postnatal ...

Segmental arterial mediolysis

Segmental arterial mediolysis (SAM) is an increasingly recognized vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal hemorrhage. It is characterized by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. Im...

Sepsis

Sepsis is a syndrome, with a poorly understood pathogenesis, characterized clinically by a recognized set of signs and symptoms in someone with presumed infection. Terminology Sepsis was defined by The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3) in 2016 as ...

Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is one of numerous polyposis syndromes and is characterized by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on loca...

Severe acute respiratory syndrome-related coronavirus

The severe acute respiratory syndrome (SARS) also known as severe acute respiratory syndrome-related coronavirus (SARS-CoV) is a zoonotic illness caused by SARS-CoV, a coronavirus. The disease was first seen in the city of Foshan in Guangdong Province in China in 2002 and was traced back to the ...

Sezary syndrome

Sézary syndrome (SS) is a type of cutaneous T-cell lymphoma. It is sometimes considered an advanced and leukemic form of cutaneous T-cell lymphoma (CTCL). Clinical presentation It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of...

Shapiro syndrome

Shapiro syndrome is a very rare condition characterized by the triad of episodic hypothermia, hyperhidrosis, and agenesis of the corpus callosum 1. A similar syndrome, characterized by episodic hyperthermia and agenesis of the corpus callosum, has been termed reverse Shapiro syndrome 2. Epidemi...

Sheehan syndrome

Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume hemorrhage and hypovolemic shock, either during delivery or afterward with resultant necrosis of anterior pituitary cells 4. Epidemiology Advances in obs...

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...

Short gut syndrome

Short gut syndrome also is known as short bowel syndrome, is a kind of malabsorption disorder due to functional loss or loss of a portion of the small or large intestine during congenital deficiency (necrotizing enterocolitis) or acquired conditions and It is classified as a rare disease by the ...

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare type...

SHORT syndrome

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 a addition to these there can be numerous associated minor features w...

Shwachman-Diamond syndrome

The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 : exocrine pancreatic insufficiency metaphyseal chondroplasia bone marrow hypoplasia (cyclic neutropenia) Clinical presentation Patients with Shwachman-...

Shy-Drager syndrome

The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA). Terminology It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifes...

Sickle cell disease (acute chest syndrome)

Acute chest syndrome (ACS) in sickle cell disease is a leading thoracic complication - as well as leading cause of mortality - in those affected by sickle cell disease. The diagnosis is made on the combination of new pulmonary opacity on chest x-ray with at least one new clinical symptom or sign...

Silent sinus syndrome

The silent sinus syndrome represents maxillary sinus atelectasis that results in painless enophthalmos, hypoglobus and facial asymmetry 1-3. Some authors restrict the term to patients with no history of sinusitis, trauma or surgery 2. Epidemiology Silent sinus syndrome usually presents in the ...

Sinus tarsi syndrome

Sinus tarsi syndrome (STS) 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 danc...

Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous syndrome and leukodystrophy characterized by the clinical triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Epidemiology Although considered very rare, the exact prevalence is not k...

Sjögren syndrome

Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva. Epidemiology Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ≈9:1. Pati...

Slit ventricle syndrome

Slit ventricle syndrome refers to cerebrospinal fluid shunt-related symptoms in the setting of small ventricles demonstrated on radiologic studies. Clinical presentation The presence of characteristic symptoms is required to diagnose slit-ventricle syndrome and must be distinguished from slit-...

SMART syndrome

SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy, is an uncommon delayed complication of cerebral radiation therapy. Clinical presentation Patients usually present years after radiation therapy (6-30 years in a case series) with seizures and subacute stroke-l...

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis. Epidemiology The estimated incidence is at 1:20000-40000 live births. Prevalence may be greater in Nordic countries. Clinical presentation There are many wh...

Smith-Magenis syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2. Terminology The condition is known by several other names which are all similar variants related to its underlying karyotype: 17p deletion syndrome, 17p11.2 monosomy, chro...

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 cl...

Sneddon syndrome

Sneddon syndrome is a type of systemic non-inflammatory vasculopathy characterized by livedo reticularis and progressive and occlusive cerebrovascular thrombosis involving the medium-sized arteries. Clinical presentation livedo reticularis as a skin manifestation progressive cerebral stroke...

Solitary rectal ulcer syndrome

Solitary rectal ulcer syndrome (SRUS) is a chronic, benign disorder characterized by the presence of an abnormality of the rectum in persons who have a long history of straining during defecation. It is a misnomer because only a third of patients have a solitary ulcer, and many have no ulcers at...

Sotos syndrome

Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterized by the 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 estimat...

Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children. Pathology It is reported that ~50% (range 28-75%) range of pediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2. Along with Spigelian hernia and cryptorchi...

Spinal cord injury

Spinal cord injury (SCI) can be traumatic or non-traumatic (i.e. neoplastic/stenosis) but the syndromes associated with spinal cord injury can be seen in all etiologies. Injury to the spinal cord can be incomplete or complete and depends upon the mechanism of injury. This is important as differ...

Spondylocostal dysostosis

Spondylocostal dysostosis (SCDO) is a rare condition characterized by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centers. Clinical presentation short neck short trunk with protruding abdomen normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly l...

Stauffer syndrome

Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement of the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice. History and etymology It is named after Maurice ...

Stevens Johnson syndrome

Stevens Johnson syndrome (SJS) is an acute inflammatory skin condition. Terminology SJS is on a spectrum of disease with toxic epidermal necrolysis syndrome (TENS) at the more severe end. Terminology depends on how much of the body surface area is involved 1,2: SJS: <10% SJS-TENS overlap: 1...

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 ...

Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Pathology Several gene mutations have been idntified dependent on specific sub types which include: Stickler syndrome type I: COL2A1 Stickler syndrome type II: COL9A1 Stickler syndrome type III: COL11A1 ...

Stiff person syndrome

Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease. Epidemiology Onset is usually between 30 and 50 years of age. An association with autoimmune disease and various malignancies is described and these are thought to play a role in the pathophysi...

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...

Sturge-Weber syndrome

Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS). Epidemiology Sturge-Weber syndr...

Subacute encephalopathy with seizures in alcoholics (SESA syndrome)

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare complication of chronic excessive alcohol consumption that can present with seizures and a variety of neurological deficits. Epidemiology SESA syndrome is rare and seen in alcoholics who are not undergoing withdrawa...

Subclavian steal syndrome

Subclavian steal syndrome (SSS) and subclavian steal phenomenon both result from occlusion or severe stenosis of the proximal subclavian artery resulting in retrograde flow in the ipsilateral vertebral artery. Terminology Subclavian steal phenomenon refers to steno-occlusive disease of the pro...

Subependymal hamartoma

Subependymal hamartomas are seen in patients with tuberous sclerosis. They are located along the ventricles and are mostly asymptomatic. As with other hamartomas, they grow at the same rate as the surrounding tissues. On imaging, they appear as small intraventricular masses, smaller than 1 cm, ...

Sulcal artery syndrome

Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...

Superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of the duodenum, leading to obstruction. It should not be confuse...

Superior orbital fissure syndrome

Superior orbital fissure syndrome (SOFS) (also known as Rochon–Duvigneaud syndrome) is a rare complication of craniofacial trauma with an orbital fracture that extends to the superior orbital fissure that results in injury to the cranial nerves III, IV, V (ophthalmic branch of the trigeminal ner...

Superior semicircular canal dehiscence syndrome

Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC). Notably, this CT finding has also been described in ~10% of individuals w...

Superior thyroid cornu syndrome

Superior thyroid cornu syndrome refers to to a situation when there is precipitation of dysphagia and /or other symptoms as a hypertrophy +/- ossification of one of both the both of the superior horns (cornu) of the thyroid cartilage. This can also result from extreme medial deviation. Treatmen...

Superior vena cava obstruction

Superior vena cava (SVC) obstruction can occur from extrinsic compression, intrinsic stenosis, or thrombosis. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms that results from this obstruc...

Susac syndrome

Susac syndrome (SS), also known as SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-age women that is clinically characterized by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing l...

Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules, and plaques) a diffuse infiltrate consisting predo...

Swyer-James syndrome

Swyer-James syndrome (SJS), also known as Swyer-James-MacLeod syndrome and Bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis. Epidemiology The condition typically follows a viral respiratory infecti...

Syndrome

A syndrome is a constellation of symptoms and signs that are associated as part of a shared etiology, pathogenesis or disease entity.

Syndrome of inappropriate antidiuretic hormone secretion

The syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) (also known as Schwartz-Bartter syndrome) was initially described in patients with lung cancer who developed hyponatremia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in whi...

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...

Syndromes with a vascular component

Ataxia-telangiectasia CREST syndrome Lemierre syndrome Maffucci syndrome PHACE syndrome Stewart-Treves syndrome Sturge-Weber syndrome von Hippel-Lindau disease Wyburn-Mason syndrome

Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy of the tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome. Clinical presentation The most common symptoms are pain and paresthesia in the toes, sole, or heel and the main find...

Taussig-Bing anomaly

Taussig-Bing anomaly is a rare congenital heart malformation and is one of the variants of double outlet right ventricle. It consists of transposition of the aorta to the right ventricle and malposition of the pulmonary artery with subpulmonary ventricular septal defect. History and etymology ...

Terson syndrome

Terson syndrome refers to vitreous hemorrhage associated with subarachnoid hemorrhage, however, some authors include retinal hemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid hemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-50% ...

Thanatophoric dysplasia

Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II. Epidemiology The estimated incidence is around 1:25,000-50,000 3. Pathology Genetics It results from a mutation coding for the fibroblast gro...

Thiamine deficiency

Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi.There are two main forms: wet beriberi: high-output cardiac failure predominates Shoshin beriberi 3: severe acute wet form with high mortality dr...

Thoracic outlet syndrome

Thoracic outlet syndrome (TOS) refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture. Clinical presentation Clinical presentation will depend on the structure compre...

Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features: fetal thrombocytopenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...

Thyrotoxicosis

Thyrotoxicosis is a hypermetabolic clinical syndrome caused by a pathological excess of circulating free T4 (thyroxine) and/or free T3 (tri-iodothyronine). Terminology Although commonly done, thyrotoxicosis should not be confused with, nor is it synonymous with hyperthyroidism. The latter term...

Tietze syndrome

Tietze syndrome is a benign condition characterized by a self-limiting inflammation of the costal cartilages often with hypertrophy. Although often described as such, it is not a costochondritis 9. Epidemiology The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...

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...

Townes-Brocks syndrome

Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterized by renal, anal, ear, and thumb abnormalities. Clinical presentation The major manifestations of this syndrome include: renal: displaced or rotated kidneys, horseshoe kidney, p...

Treacher Collins syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of 1st and 2nd branchial arches. Epidemiology The incidence is estimated at approximately 1 in 50,000 live births, with 60% of cases being...

Trisomies

The trisomies are chromosomal anomalies which usually occur due to non-disjunction. The vast majority of affected fetuses are spontaneously aborted, often very early during gestation. Only three are compatible with extrauterine life (T13, T18, T21), and only one beyond early infancy (T21). In o...

Trisomy 8 mosaic

Trisomy 8 mosaicism or Warkany syndrome is less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exhib...

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

Trousseau syndrome

Trousseau syndrome (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin-producing tumors; hence one of its other names: cancer-associated thromboembolism 1. History and etymology Armand Trousseau (1801-1867),...

Tumor necrosis factor receptor-associated periodic syndrome

Tumor necrosis factor receptor-associated periodic syndrome (or sometimes abbreviated as TRAPS) is a condition characterized by recurrent (periodic) episodes of fever as well as spectrum of dermatologic findings, including migratory patches, edematous plaques, periorbital edema, and/or conjuncti...

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...

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...

Twin embolization syndrome

Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin. Pathology It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...

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...

Ulnar dimelia

Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna and duplication of the ulnar halves of the carpals, metacarpals and phalanges 1. Pathology Embryology The embryology of mi...

Ulnar styloid impaction syndrome

Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone. Pathology An ulnar styloid >6 mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal...

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...

Valgus extension overload syndrome

Valgus extension overload syndrome, also known as pitcher's elbow, refers to a constellation of symptoms and pathologies commonly seen in overhead throwing athletes secondary to high repetitive tensile, shear and compressive forces generated by the overhead throwing motion. The syndrome may cor...

Van der Woude syndrome

van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae/pits with cleft lip and/or palate. It is one of the most common clefting syndromes in humans 1 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...

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...

VATER

VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies. V: vertebral anomalies A: anal atresia TE: tracheo-oesophageal fistulas R: radial ray hypoplasia, polydactyly and renal agenesis Epidemiology The prevalence of at least 3/5 anomalies occurs...

Ventral cord syndrome

Ventral cord syndrome (also known as anterior cord syndrome) is one of the incomplete cord syndromes and affects the anterior parts of the cord resulting in a pattern of neurological dysfunction dominated by motor paralysis and loss of pain, temperature and autonomic function. Anterior spinal ar...

Vernet syndrome

Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a glomus jugulare tumor, schwannoma, or metastasis 2. Clinical presentation It consists of motor paralysis of: glossopharyngeal nerve ...

Vogt-Koyanagi-Harada syndrome

Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterized by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations. Epidemiology Vogt-Koyanagi-Harada usually affected those of Asian, Middle Eastern, Asian I...

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...

Waardenburg syndrome

Waardenburg syndrome is a rare congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafness. Epidemiology Est...

WAGR syndrome

The WAGR syndrome stands for: Wilms tumors (greatly increased risk) aniridia genital anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.

Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...

Waterhouse-Friderichsen syndrome

Waterhouse-Friderichsen syndrome (also known as purpura fulminans 9 or hemorrhagic adrenalitis 10) is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia. Pathology Waterhouse-Friderichsen syndrome is due to septicemia and common...

Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...

Weber syndrome

Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve 1-3,5. Occasionally the substantia nigra can also be involved 5. Clinical presentation ipsilateral CN III palsy diplopia ptosis afferent pupillary defect ...

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