The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts:
lumbar spine fracture
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
The estimated incidence is ~1:10,000. There is no recognized gender predilection.
It is clinically characterized by many features including:
intrauterine growth restriction
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 is a syndrome, with a poorly understood pathogenesis, characterized clinically by a recognized set of signs and symptoms in someone with presumed infection.
Sepsis was defined by The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3) in 2016 as ...
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...
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 ...
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).
It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of...
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.
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.
Advances in obs...
Shone syndrome, also known as Shone complex, is a rare syndrome characterized by left-sided, obstructive congenital heart defects.
Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1.
Patients, usually ne...
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(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 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...
The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by 1 :
exocrine pancreatic insufficiency
bone marrow hypoplasia (cyclic neutropenia)
Patients with Shwachman-...
The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA).
It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifes...
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...
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.
Silent sinus syndrome usually presents in the ...
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.
Sinus tarsi syndrome has been described in danc...
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.
Although considered very rare, the exact prevalence is not k...
Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva.
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 refers to cerebrospinal fluid shunt-related symptoms in the setting of small ventricles demonstrated on radiologic studies.
The presence of characteristic symptoms is required to diagnose slit-ventricle syndrome and must be distinguished from slit-...
SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy, is an uncommon delayed complication of cerebral radiation therapy.
Patients usually present years after radiation therapy (6-30 years in a case series) with seizures and subacute stroke-l...
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis.
The estimated incidence is at 1:20000-40000 live births. Prevalence may be greater in Nordic countries.
There are many wh...
Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2.
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 (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.
Some reports suggest that up to 10% of population may have this to some degree 8.
This condition is cl...
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.
livedo reticularis as a skin manifestation
progressive cerebral stroke...
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 it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterized by the prenatal and postnatal overgrowth.
There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimat...
Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.
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 (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 (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 is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centers.
short trunk with protruding abdomen
craniovertebral junction stenosis
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 (SJS) is an acute inflammatory skin condition.
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-TENS overlap: 1...
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 refers to a group of disorders primarily affecting connective tissue.
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, previously known as stiff man syndrome, is a very rare neuromuscular disease.
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 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, 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).
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.
SESA syndrome is rare and seen in alcoholics who are not undergoing withdrawa...
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.
Subclavian steal phenomenon refers to steno-occlusive disease of the pro...
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 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 (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 (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 (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 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.
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 (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 (acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include:
tender erythematous skin lesions (papules, nodules, and plaques)
a diffuse infiltrate consisting predo...
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.
The condition typically follows a viral respiratory infecti...
A syndrome is a constellation of symptoms and signs that are associated as part of a shared etiology, pathogenesis or disease entity.
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 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...
von Hippel-Lindau disease
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.
The most common symptoms are pain and paresthesia in the toes, sole, or heel and the main find...
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.
Clinical presentation will depend on the structure compre...
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...
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.
The incidence is estimated at approximately 1 in 50,000 live births, with 60% of cases being...
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...
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 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...
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...
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 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