The systemic inflammatory response syndrome (SIRS) refers to a pathophysiological state in patients with a critical non-infectious or infectious illness. It is non-specific and although commonly associated with sepsis can be seen in many life-threatening illnesses.
Tarsal tunnel syndrome refers to an entrapment neuropathy (tunnel syndrome) of the tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome.
The most common symptoms are pain and paresthesia in the toes, sole, or heel...
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 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.
Terson syndrome has been reported to occur in 13-50% ...
Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
The estimated incidence is around 1:25,000-50,000 3.
It results from a mutation coding for the fibroblast gro...
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
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 11.
Clinical presentation will depend on the structure com...
Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features:
absent fetal radii (bilaterally) with the presence of both thumbs
The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
Thyrotoxicosis is a hypermetabolic clinical syndrome caused by a pathological excess of circulating free T4 (thyroxine) and/or free T3 (tri-iodothyronine).
Although commonly done, thyrotoxicosis should not be confused with, nor is it synonymous with hyperthyroidism. The latter term...
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.
The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...
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.
Clinically, top of the basilar synd...
Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterized by renal, anal, ear, and thumb abnormalities.
The major manifestations of this syndrome include:
renal: displaced or rotated kidneys, horseshoe kidney, p...
Toxic shock syndrome (TSS) is a severe bacterial-toxin mediated condition, characterized by an initial soft tissue infection, which rapidly progresses to systemic disease and circulatory collapse 5. It is due to a Gram positive infection, most frequently Staphylococcus aureus or Streptococcus py...
Transient osteoporosis is a self-limited condition characterized by reparative bone remodeling, which can affect all weight-bearing joints, being most common in the femoral head. For detailed description of that condition see transient ostoporosis of the hip.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of first and second branchial arches (see branchial apparatus).
The incidence is estimated at approximately 1 in 50,000 live b...
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).
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...
Trochanteric syndrome (greater trochanteric pain syndrome) refers to pain that originates from the lateral hip region.
Bursitis is not necessarily present and the often-used term trochanteric bursitis is therefore not always appropriate 1.
Trochanteric syndrome most ...
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 (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 (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 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.
Turcot syndrome is a rare disease. Patients typically present in the second decade 3.
Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.
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 (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin.
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 (TTTS) is a potential complication that can occur in a monochorionic (either MCDA or MCMA) twin pregnancy.
This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies giving an estimated prevalence of ~1:2000 of all pregnancie...
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.
The embryology of mi...
Ulnar impaction syndrome, also known as ulnar abutment or ulnocarpal impaction or loading, is a painful degenerative wrist condition caused by the ulnar head impacting upon the ulnar-sided carpus with the injury to the triangular fibrocartilage complex (TFCC).
Differentiation from ulnar impinge...
Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone.
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 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.
The estimated incidence is 1 in 10,000-40,000 births 3.
The acronym VACTERL derives from:
V: vertebral an...
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 (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.
It carries an aut...
Von Wyk Grumbach syndrome is characterized by chronic hypothyroidism with high levels of thyroid-stimulating hormone (TSH), delayed bone age, precocious puberty but lacking pubic and axillary hair growth 1.
The acquired form of hypothyroidism is seen in children caused by chronic...
The are numerous vascular syndromes that can occur in the body. They include:
Syndromes principally involving the vascular system
celiac artery compression syndrome
hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
hypothenar hammer syndrome
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
The prevalence of at least 3/5 anomalies occurs...
Vaughan-Jackson syndrome describes a rare syndrome of sequential atraumatic extensor tendon ruptures in the hand, usually in the setting of rheumatoid arthritis of the distal radioulnar joint.
The presentation is with reduced extension of the fingers 1-5. Typically, the f...
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, 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.
It consists of motor paralysis of:
glossopharyngeal nerve ...
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.
Vogt-Koyanagi-Harada usually affected those of Asian, Middle Eastern, Asian I...
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.
The disease is rare with an estimated prevalence of 1:35,000-50,...
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.
The WAGR syndrome or complex stands for:
Wilms tumors (greatly increased risk)
intellectual retardation (disability)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
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 (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.
Waterhouse-Friderichsen syndrome is due to septicemia and common...
Weaver syndrome (WS) is a rare congenital disorder.
increased birth weight: fetal macrosomia
accelerated osseous maturation: increased bone age
typical facial features
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.
ipsilateral CN III palsy
afferent pupillary defect
Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to an ECG pattern specific for critical stenosis of the proximal left anterior descending artery. The anomalies described occur in patients with recent anginal chest pain, and do not have chest pain when the ECG is record...
Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome.
Werner syndrome is characterized by
scleroderma-like skin changes such ...
Wernicke aphasia, also known as receptive aphasia or fluent aphasia, is the inability to grasp the meaning of spoken or written words and sentences while producing connected speech is not greatly affected.
Receptive aphasia is usually caused by injury to the dominant posterior temporal lobe (We...
Wernicke encephalopathy, also referred as Wernicke-Korsakoff syndrome, is a form of thiamine (vitamin B1) deficiency, and is typically seen in alcoholics.
On imaging, it is commonly seen on MRI as areas of symmetrical increased T2/FLAIR signal involving the mammillary bodies, dorsomedial thalam...
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of:
fasting hypoglycemia (<50 mg/dL)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
The triad and also the Whipple procedure were both named a...
White cord syndrome refers to the sudden onset of neurological deterioration following spinal decompressive surgery. The condition is believed to be a form of reperfusion injury of the spinal cord, not to be confused with central cord syndrome.
White cord syndrome is rare with onl...
Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:
congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness
Duane syndrome: an ocular motility disturbance due to fibrosis of the extraocul...
Williams syndrome (WS) is characterized by some or all of the following features:
craniofacial dysmorphism (e.g. elfin facies)
short stature (50% of cases)
mild to moderate intellectual disability
supravalvular aortic stenosis 2
pulmonary artery stenosis 3
Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia.
History and etymology
Almost 51 years ago, Wilson...
The Wolff-Parkinson-White syndrome describes paroxysmal tachydysrhythmias in the presence of a specific accessory pathway which allows direct electrical connection between the atria and ventricles, which usually exclusively occurs via the atrioventricular (AV) node. The accessory pathway is usua...
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3).
There is a large clinical spectrum:
agenesis of the corpus callosum
Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.
The syndrome presents with early onset of insulin-dependent diabetes mellitus, progressive optic atrophy, diabetes ins...
Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.
Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhea and vomiting. Abdominal dis...
Wunderlich syndrome is a rare condition in which spontaneous nontraumatic renal hemorrhage occurs into the subcapsular and perirenal spaces.
Wunderlich syndrome is clinically characterized by Lenk's triad:
acute flank pain
Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...
X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are:
broad nasal bridge
cleft lip and/or palate
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
severe neurologic impairment include small cerebellar vermis and dandy walker malformation
diastasis of sutures
Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys.
The condition typically presents in neonates with poor feeding and/or seizures. ...
Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosa...
Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1.
Patients are typically diagnosed during the 3rd or 4th decade of life and often present with per...
Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.
Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.
Gastrinomas are usually multiple and typically located in the duodenum (more common) ...
Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic.
It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...