Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterised 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 paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.
Along with Spigelian hernia and cryptorch...
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 aetiologies.
Injury to the spinal cord can be incomplete or complete and depends upon the mechanism of injury. This is important as diffe...
Spondylocostal dysostosis (SCDO) is a rare condition characterised 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 centres.
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 the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.
History and etymology
It is named after Maurice H. ...
Stevens Johnson syndrome (SJS) is an acute inflammatory skin condition.
SJS is on a spectrum of disease with toxic epidermal necrolysis (TEN) at the more severe end. Terminology depending on how much surface area is involved 1,2:
SJS-TEN overlap: 10-30%
Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphoedema 1.
It was classically attributed to lymphoedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in any chronically lymphoedematous region due to any cause2.
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, was first described in 1956 by Moersch and Woltman of Mayo Clinic 1 and is a very rare neuromuscular disease characterised by:
progressive muscle stiffness of the spine and lower extremities
muscle spasms triggered by external stim...
Straight back syndrome refers to the loss of the normal thoracic kyphosis and associated decrease in anteroposterior diameter.
Most patients are asymptomatic. On precordial auscultation, individuals with this condition can have an ejection systolic murmur over the pulmona...
Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised 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).
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...
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 superior mesenteric artery (SMA) results in compression of the third part of the duodenum leading to obstruction.
It should not be confused wit...
Superior semicircular canal dehiscence syndrome (SCDS) is a recently described inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSC).
Notably, this CT finding has also been described in ~10%...
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 obstruct...
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 characterised by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing l...
Sweet syndrome (acute febrile neutrophilic dermatosis) is characterised 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...
Syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) was described in patients with lung cancer who developed hyponatraemia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in which the sodium remains normal but total body fluid incre...
Syndrome of the trigone occurs when intracranial tumours 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 ...
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 haemorrhage associated with subarachnoid haemorrhage, however some authors include retinal haemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid haemorrhage.
Terson syndrome has been reported to occur in 13-5...
Thanatophoric dysplasia (TD) 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 fibroblas...
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 characterised 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...
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 ischaemia due to occlusion of perforator vessels.
Clinically, top of the basilar syn...
Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterised by renal, anal, ear, and thumb abnormalities.
The major manifestations of this syndrome include:
renal: displaced or rotated kidneys, horseshoe kidney, p...
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 is referred to by a number of names, such as migratory thrombophlebitis and cancer-associated thromboembolism, but is essentially the association of venous thrombosis provoked by a yet to be diagnosed malignancy.
Turcot syndrome is one of the variations in polyposis syndromes.
Patients typically present in the second decade 3.
Turcot syndrome is characterised by:
CNS tumours: most commonly glioblastoma or medulloblastoma
It is thought to carry...
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...
The twin embolisation 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...
Twin to twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic twin (either MCDA or MCMA) 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 unlar styloid >6mm 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...
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. VWS individuals have a high prevalence of hypodontia.
It carries anautoso...
The are numerous vascular syndromes that can occur in the body. There include
Syndromes principally involving the vascular system
coeliac artery compression syndrome
hereditary haemorrhagic 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 oc...
Vernet syndrome (also known as the jugular foramen syndrome) is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion such as a glomus jugulare tumour or schwannoma. It consists of motor paralysis of:
glossopharyngeal nerve (CN IX)
vagus nerve (CN X)
Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterised 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 characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-5...
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 tumours (greatly increased risk)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to WT1 gene.
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by:
fetal hydrocephalus: almost always present
neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Waterhouse-Friderichsen syndrome is characterised by adrenal insufficiency that results from atraumatic adrenal haemorrhage in consequence of septicaemia.
Waterhouse-Friderichsen syndrome is due to septicaemia and common infective agents include 5:
meningococcus: traditionally desc...
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.
ipsilateral CN III palsy
contralateral hemiplegia or hemiparesis
It is usually caused by an ischaemic stroke, typically...
Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to a specific ECG abnormality in the precordial T-wave segment. It can be associated with a critical stenosis of the proximal left anterior descending artery.
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 characterised 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 due to 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 thalami, ...
Whipple triad is the clinical presentation of pancreatic insulinomas and consists of:
fasting hypoglycemia (<50 mg/dl)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of IV glucose
History and etymology
As a good piece of trivia, one would suspect that Whipple...
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 extraocu...
Williams syndrome (WS) is characterised by some or all or the following features:
craniofacial dysmorphism (e.g. elfin facies)
short stature (50% of cases)
mild to moderate mental retardation
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.
chronic pulmonary insufficiency of prema...
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial deletion of the p arm of chromosome 4 (4p16.3).
agenesis of the corpus callosum
cleft lip + / - palate...
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, diarrhoea and vomiting. Abdominal di...
Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal haemorrhage occurs into the subcapsular and perirenal spaces 2.
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 yet to be fully elucidated. Obstructive azoopsermia at the level of the epididymis is thought to be the cause of infertility. The commonly refer...
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
severe neurologic impairment
diastasis of sutures
absent thumbs and distal phalanges of fingers
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 (CNS), liver and kidneys.
The condition typically presents in neonates with poor feeding and/or seiz...
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 high mutation rate and rare instances of germinal mosaic...
Zinner syndrome is a triad of 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 perineal pain, re...
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) ...
The Zuelzer-Wilson syndrome (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. Multiple procedures have been devised to treat the condition, including proctocolectom...