PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis.
Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.
In the majority of cases, abdominal symptoms are mild or absent, makin...
Pre-axial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially).
Pre-axial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000.
Primary progressive aphasia was first described in 1982 and is the umbrella term for the language-variant frontotemporal dementias associated with frontotemporal lobar degeneration (FTLD) 3.
It is an insidious disorder characterised by gradual impairment of speech and lan...
Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS).
Although the primary clinical manifestations of progeria include short stature and skin changes, the disease is...
Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. It comprises a constellation of signs and symptoms that result from compressi...
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular ...
Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome is a systemic condition charaterised by degeneration of elastic fibers. It has multi-organ manifestations.
Its prevalence is estimated to be around 1 in 25,000 9.
Patients may prese...
PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include:
Those not f...
Quadrangular space syndrome (QSS) is an uncommon diagnosis mainly because of lack of literature on the subject and possible misdiagnosis.
QSS is present on ~1% of shoulder MRIs 6.
Patients present with posterior shoulder pain and paresthesia over the later...
Radial tunnel syndrome is an entity that refers to entrapment of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5.
The syndrome is characterized by pain along...
Radiologically isolated syndrome (RIS) is defined by MRI findings suggestive of multiple sclerosis (MS) in asymptomatic ("clinically silent") patients. Radiological progression usually occurs in approximately 66% of patients with RIS, while ~ 33% per 5 year period will subsequently develop neuro...
Raghib syndrome is a rare developmental complex, which consists of
persistence of the left superior vena cava along with
coronary sinus ostial atresia and
atrial septal defect.
It has also been associated with other congenital malformations including ventricular septal defects, enlargement o...
Ramsay Hunt syndrome (RMS), also known as herpes zoster oticus, is essentially shingles of the facial nerve. Latent infection is present in the geniculate ganglion with painful vesicles showing in the external acoustic meatus, tympanic membrane and pinna associated with facial palsy. There may b...
Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature.
Clinically, 2 subtypes have been reported 1:
abducens nerve ...
Reactive arthritis (ReA) is a sterile inflammatory arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy.
Reactive arthritis was formerly known as Reiter syndrome/disease, which is the...
Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation1.
Following a period of normal develop...
Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion, and usually with associated bronchiectasis.
Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). It ...
Roberts Syndrome (RBS) (also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, Appelt-Gerken-Lenz syndrome) is rare congenital malformation syndrome. It has an autosomal recessive inheritance.
intrauterine growth restriction (IUGR)
Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms.
The syndrome can affects several systems which include:
mesomelic limb shortening: mesomelia
characteristic facies anomalies
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes.
The disease predominantly occurs in young adults with a mean age at presentation of 21 years....
Rotational occlusion of the vertebral artery, also known as Bowhunter syndrome, is a rare form of posterior cerebral circulation ischemia secondary to dynamic compromise of the dominant vertebral artery.
It has many aetiologies, but is most often due to large osteophytes or atlanto-axial hyperm...
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by mental retardation, broad and often angulated thumbs and halluces, and distinctive facial features.
The estimated incidence is 1 in 100,000-125,000 live births 5.
Russell-Silver dwarfism is a very rare syndrome characterised by:
intrauterine growth restriction: tends to give an asymmetrical IUGR
postnatal growth restriction
relatively large calvarium: pseudohydrocephalus
clinodactyly/clinobrachydactyly of the small finger
a typical triangular type fa...
Ruvalcaba syndrome (also known as Ruvalcaba-Myhre-Smith syndrome) is one of a group of disorders related to congenital skeletal disturbance. It is characterized by:
mental (not invariably) and physical retardation
The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly.
Its main features include:
congenital limb abnormalities
congenital heart defects
History and etymology
Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments.
The patient may present with non-specific abdominal pain.
At laparoscopy, they are typi...
The SAPHO syndrome is an acronym that refers to a rare condition that is manifested by a combined occurrence of 2
It classically tends to present in young to middle-aged adults. Presentation in the paediatric pop...
Schimmelpenning syndrome is a rare and variable congenital multisystem condition characterised by extensive linear naevi sebacei and abnormalities in different neuroectodermal organ systems.
Classical triad including sebaceous nevi, seizures, and intellectual disability....
Sclerosing encapsulating peritonitis is a rare benign cause of acute or subacute small bowel obstruction. It is characterised by total or partial encasement of the small bowel within a thick fibrocollagenous membrane.
The condition was originally termed abdominal cocoon. It has als...
Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1.
Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
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 recognised gender predilection.
It is clinically characterised by many features including
intrauterine growth restriction (IUGR)
Segmental arterial mediolysis (SAM) is an increasingly recognised vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal haemorrhage. It is characterised by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. I...
Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is characterised by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on location and family history.
SPS has an hetero...
Sézary syndrome (SS) is a type of cutaneous T cell lymphoma. It is sometimes considered an advanced and leukaemic form of cutaneous T cell lymphoma (CTCL).
It is clinically characterised by an extensive erythematous rash covering most of the body as well as presence of ma...
Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism.
It only occurs in postpartum females who experience large volume haemorrhage and hypovolaemic shock, either during delivery or afterwards.
pituitary failure 1
may be silent and present with dela...
Shone syndrome is characterised by four congenital heart defects, largely multiple left sided obstructions:
supravalvular mitral membrane (SVMM)
subaortic stenosis (membranous or muscular)
parachute mitral valve
coarctation of the aorta
Short rib polydactyly syndrome(s) (SRPS) comprise of a rare group of severe osteochondrodysplasias. There are four major recognised 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 t...
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 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...
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 syndrome is an autoimmune condition of exocrine glands that produce tears and saliva.
Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognised female predilection with F:M ratio of ≈ 9:1. Patients typically present a...
Slit ventricle syndrome is defined as the radiological appearance of slit-like ventricles on CT and MRI images in patients with ventriculoperitoneal shunt. Mild forms are seen in adults and more severe forms are seen in children. Patients must be symptomatic to be diagnosed with slit ventricle s...
SMART syndrome, a catchy acronym for the otherwise unwieldy stroke-like migraine attacks after radiation therapy, is an uncommon delayed complication of cerebral radiation therapy.
Patients usually present years after radiation therapy with prolonged stroke-like episodes...
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.
The condition often results f...
Snapping hip syndrome is simply an audible snapping sound produced during motion of the hip. It has both intra- and extra-articular causes.
iliotibial band snapping over the greater trochanter (iliotibial band syndrome - not always audible)
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 estima...
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 post-mastectomy lymphoedema. It however only accounts for 10% of all angiosarcomas seen in the setting of chronic post-mastectomy lymphoedema.
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 loss of the normal thoracic kyphosis. Individuals with this condition can present with a cardiac murmur due to compression of the right ventricular outflow tract (RVOT) 2.
There is questionable association with mitral valve prolapse 1.
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
TAR syndrome stands for thrombocytopaenia with absent radius and as the name implies 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 estima...
Tarsal tunnel syndrome refers to an entrapment neuropathy of the posterior 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...
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...
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...
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 referred as 45X, is the most common of 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 45X abor...
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 the one of the most common clefting syndromes in humans 1. VWS individuals have a high prevalence of hypodontia.
It carries anau...
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.