Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma.
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex.
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 ...
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as the Churg-Strauss syndrome (CSS), refers to a small to medium vessel necrotising pulmonary vasculitis. It is also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and granuloma...
Ischiopubic synchondrosis asymmetry is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding.
However, some cases are thought to be symptomatic and ma...
Guillain-Barré syndrome (GBS) is defined as a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar ...
Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder.
The effects are seen mainly on the skeletal system and primarily involves
digits of the hands and feet: phalangeal
The Carney triad is a rare syndrome defined by the coexistence of three tumours:
extra-adrenal paraganglioma (e.g. spinal paraganglioma)
initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1
CEC syndrome refers to the combination of coeliac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and coeliac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1.
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multi-system manifestations.
According to the world health organisation (WHO), the approximate worldwide inci...
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...
Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur, primarily the quadratus femoris muscle. Narrowing of the distance between these two osseous landmarks (ischiofemoral space) predisposes for and correlates with i...
Nail-patella syndrome (also known as Fong disease, osteo-onychodysostosis, Österreicher-Turner syndrome 10, Turner-Kieser syndrome, and Trauner-Rieger syndrome) is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities.
Alagille syndrome (AGS) is a congenital genetic multi-system disorder.
Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.
AGS is inherited in an autosomal fashion with a mutation of...
Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis that usually manifests with lymphadenopathy, fevers, erythema nodosum, and arthritis.
It is important to not confuse this syndrome with Löffler syndrome, as the names are quite similar but the condi...
Haglund syndrome refers to the triad (Haglund's triad) of:
insertional Achilles tendinopathy
Haglund deformity (i.e. posterosuperior calcaneal exostosis)
This results in pain at the back of the heel. It is associated with calcaneal spurs, and the wearing of high heels...
Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus.
Clinical features of anterior ankle impingement syndrome include painful and limited dorsiflexion and anterior joint line swellin...
Dyke-Davidoff-Masson syndrome (DDMS) is a condition characterised by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterised by:
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...
Lemierre syndrome refers to thrombophlebitis of the jugular veins with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess.
Since the advent of antibiotics, the inciden...
Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition which can affect the extremities in a wide clinical spectrum.
Two types of CRPS have been described 8:
type 1: no underlying single nerve lesion (formerly known as reflex sympathetic dystrophy)
Idiopathic pulmonary fibrosis (IPF) is a clinical syndrome and considered the most common and the most lethal form of pulmonary fibrosis corresponding to the histologic and imaging pattern of UIP. It is more common in middle age or elderly men and diagnosed by:
histological or imaging pattern ...
Failed back syndrome refers to persistent leg and/or lumbar back pain after a surgical procedure. The pathophysiology of this syndrome is complex, as often the operation was technically successful.
Other names for failed back syndrome include failed back surgery syndrome, post-lam...
CREST syndrome (a.k.a. limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for
C - Calcinosis
R - Raynaud phenomenon
E - oEsophageal dysmotility
S - Sclerodactyly
T - Telangiectasia
Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterised by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy.
It can be either primary (usually autosomal dominant) or se...
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...
Heerfordt syndrome, also known as Heerfordt-Waldenström syndrome or uveoparotid fever, is a variant of sarcoidosis, comprising of:
ocular involvement (anterior uveitis)
The exact prevalence is unknown, as only isolated case reports exist....
Caudal regression syndrome (CRS) represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis.
Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10.
Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognised cause of unilateral hyperlucent hemithorax.
Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimat...
Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are:
ST elevation myocardial infarction (STEMI)
non-ST elevation myocardial infarction (non-STEMI)
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...
Hypothenar hammer syndrome occurs from trauma to the distal ulnar artery or proximal portion of superficial palmar arch as a result of repetitive trauma to the hypothenar eminence. Originally described in patients using hammers and screwdrivers, it is also seen in various athletes such as basket...
Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependant mitochondrial enzymes.
Carpal tunnel syndrome results from compression of the median nerve within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndrome.
The metabolic syndrome, also known as syndrome X, is a set of five conditions, which together increase a patient's risk of developing cardiovascular disease 1.
There are five central components of the metabolic syndrome:
impaired glucose tolerance
Cauda equina syndrome refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is considered a diagnostic and surgical emergency.
Cauda equina syndrome is rare with prevalence estimated at approximately 1...
Goodpasture syndrome, also referred as antiglomerular basement membrane (anti-GBM) antibody disease, is an autoimmune disease characterised by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is a type of pulmonary-renal syndrome.
Goodpasture syndrome i...
Rotational vertebral artery occlusion syndrome, also known as bow hunter's syndrome, is a rare form of vertebrobasilar insufficiency secondary to dynamic compression of the usually-dominant vertebral artery.
It has many predisposing aetiologies, but is most often due to large osteophytes, atla...
Morgagni-Stewart-Morel syndrome consists of the triad of:
hyperostosis frontalis interna
excessive hair growth (virilism/hirsutism)
and along with these metabolic/hormonal disorders is associated with neuropsychiatric conditions. The cause is unclear.
History and etymology
Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state that occurs secondary to the inability of the posterior circulation to autoregulate in response to acute changes in blood pressure. Hyperperfusion with resultant disruption of the blood brain barrier results in vasogenic o...
Locked-in syndrome is a condition that can occur as a result of a stroke involving the brainstem; the stroke damages the ventral brainstem, corresponding to the pyramidal bundles.
The infarct is pontine; the midbrain is preserved. The oculomotor nerve III is intact so the...
May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2.
Although both left and right CIVs lie deep to the right common iliac artery, the left...
Leaky lung syndrome refers to a form of non-cardiogenic pulmonary oedema.
Pulmonary oedema due to increased capillary permeability.
Leaky lung syndrome is considered a mild form of a part of the spectrum of acute lung injury with ARDS at the other end of the...
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set of features that can consist of:
macroglossia: most common clinical finding 4
otic dysplasia ref
localised gigantism / macrosomia
Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM) and is considered being on the lesser end of the disease spectrum in the Dandy-Walker continuum.
This term was created to include those malformations that do not mee...
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...
Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterised by a widespread erythema, oedema and ulceration of the hands and feet.
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...
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...
Occipital horn syndrome is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. The Menkes disease / kinky hair syndrome is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital horn syndrome (also known as X-linked...
Large vestibular aqueduct syndrome (LVAS), also known as large endolymphatic sac anomaly (LESA), refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct. It is thought to be one of the most common congenital causes of sensorineural hearing loss (SNHL)...
MERRF (myoclonic epilepsy with red ragged fibres) is a rare, multisystem mitochondrial disorder.
Patients usually present in late adolescence or early adulthood with 1,2,3
vision and/or hearing loss
Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles.
Levator ani syndrome is characterised by recurrent pain, pressure or discomfort in the region of the rectum, sac...
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...
All-trans retinoic acid (ATRA) syndrome (more recently known as differentiation syndrome (DS)8) is a condition that can occur with patients with acute promyelocytic leukaemia who are on therapeutic all-trans-retinoic acid (ATRA).
All-trans-retinoic acid (ATRA) is a normal constituent of plasma....
Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.
Bouveret syndrome occurs most commonly in elderly women. The presenting...
Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 2.
It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between severity of disease and age o...
Mazabraud syndrome is a rare syndrome consisting of:
fibrous dysplasia: usually polyostotic 2
multiple soft tissue myxomas (intramuscular myxomas): typically in large muscle groups
It is very rare, with only 81 cases in the global literature reported to 2012 13. It is most frequ...
Morvan syndrome, also known as Morvan fibrillary chorea, is a rare syndrome thought to be either paraneoplastic or autoimmune in origin.
It is characterised by:
Voltage gated pot...
Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with status epilepticus in a previously normal child (or less commonly adult) after a febrile illness.
FIRES has received several names in the literature:
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...
Folliculin gene-associated syndrome (FLCN-S) or Birt-Hogg-Dubé (BHD) syndrome is a genetic multisystemic disease mainly characterised by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumours (particularly chromophobe renal cell cancer and oncocytoma)
Asherman syndrome, also known as uterine synechiae, is a condition characterised by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility.
There is a tendency for the condition to develop soon af...
Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment.
Acute compartment syndrome is more comm...
Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.
It tends to be more common ...
Budd-Chiari syndrome refers to the clinical picture that occurs when there is partial or complete hepatic venous outflow obstruction. It is characterised on imaging by ascites, caudate hypertrophy, peripheral atrophy, and prominent collateral veins.
Budd-Chiari syndrome is rare. ...
4D syndrome is a term used to describe a manifestation of syndromic glucagonomas, a type of pancreatic endocrine tumour.
D: dermatitis 2
necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions
oral rashes (angular stomatitis, cheilitis)
tend to ...
Post thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension.
PTS is a common complication following extensive DVT of the limbs. Up to...
Central cord syndrome is the most common type of incomplete spinal cord injury, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of a contusion of the central portion of the cervical spinal cord.
Most often central cord syndrome occ...
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Acute respiratory distress syndrome (ARDS) is a form of acute lung injury (ALI) and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury.
Pinch-off syndrome is a spontaneous catheter fracture, which is seen as a complication of subclavian venous catheterisation.
It is a known complication of central venous catheterisation with a much-reduced incidence in current practice and is generally considered to be rare.
HELLP syndrome is a pregnancy-related condition and is an abbreviation for:
elevated liver enzymes and
It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.
The estimated inciden...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus, when it is considered a type o...
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...
Chilaiditi syndrome is the anterior interposition of the colon to the liver reaching the under-surface of the right hemidiaphragm with associated upper abdominal pain; it is one of the causes of pseudopneumoperitoneum.
Colonic gas in this position may be misinterpreted as true pneumoperitoneum ...
Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. The condition may vary from mild to severe. Goldenhar syndrome has been described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present.
HFM is al...
Anterior choroidal artery syndrome is a rare entity characterised by the triad of hemiplegia, hemianaesthesia and contralateral hemianopia as a result of cerebral infarction in the anterior choroidal artery territory.
The syndrome may also be associated with neuropsychological disorders, includ...
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...
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...
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...
Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), is the most commonly inherited neuropathy of lower motor (to a lesser degree sensory) neurons.
The prevalence of CMT in one Norwegian study was 82.3 cases per 100,000 people 4.
Leukoencephalopathy with calcifications and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and oedematous cysts.
Leukoencephalopathy with calcifications and cysts is an extremely rare condition, w...
Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischaemic events occurring in patients who have circulating antiphospholipid antibodies.
Patients have circulating antiphospholipid antibodies cross-re...
Good syndrome is a rare paraneoplastic syndrome in which a thymoma causes hypogammaglobulinemia and humoral immunodeficiency. It has been estimated to occur in 0.2%–2% of thymomas 2.
low to absent B-cells
T-cell mediated defects
CD4 T-cell lymphopenia
inverted CD4/CD8+ T-cell ratio
Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood.
The cause is not usually ...
CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:
H: heart defects (congenital heart disease)
A: atresia (choanal)
R: retardation (mental)
G: genital hypoplasia
E: ear abnormalities/deafness
Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...
Antley-Bixler syndrome (ABS) (or trapezoidocephaly-synostosis syndrome) is a rare, autosomal dominant or recessive condition characterised by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
Very rare condition with only 50 cases described in th...
Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.
A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity ...
Carotidynia, also known as Fay syndrome, is a rare syndrome characterised by neck pain in the region of the carotid bifurcation.
It was classified by the International Headache Society (IHS) in 1988 as an idiopathic neck pain syndrome associated with tenderness over the carotid bifurcation with...
Post-pneumonectomy syndrome is delayed complication of pneumonectomy characterised by respiratory compromise caused by severe mediastinal shift and counterclockwise rotation of the heart and great vessels.
Rare delayed complication of pneumonectomy, which more commonly involves th...
The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterised by 1 :
exocrine pancreatic insufficiency
bone marrow hypoplasia (cyclic neutropenia)
Patients with Shwachman-...
Lateral medullary syndrome (or Wallenberg syndrome) is a clinical syndrome caused by an acute ischemic infarct of the lateral medulla oblongata. This is most commonly due to occlusion of the intracranial portion of the vertebral artery followed by PICA and its branches 1-3. This syndrome is cha...