18q syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as does their severity. Characteristic features include short stature, mental retardation and hypotonia, facial and distal skeletal abnor...
The 22q11.2 deletion syndrome, also known as the DiGeorge syndrome or velocardiofacial syndrome, is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but a recognisable pattern of physical and behavioural features.
The estimated incidence is a...
4D syndrome is a term given to syndromic glucagonomas, a type of pancreatic endocrine tumour.
D: dermatitis (necrolytic migratory erythema, often involving the groin)
D: deep vein thrombosis
Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Aase-Smith syndrome is an extremely rare congenital disorder.
congenital hypoplastic anaemia - fetal anaemia
cleft lip, cleft palate
hydrocephalus (due to Dandy-Walker anomaly)
Acrocephalosyndactyly syndromes (ACS) is a rare group of disorders collectively characterised by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
While there can be some overlap in features, they can be primarily classified into the following majo...
Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, mental retardation and deafness.
Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to occur...
Acute aortic syndrome (AAS) describes the presentation of patients with one of a number of life threatening aortic pathologies that give rise to aortic symptoms.
The spectrum of these aortic emergencies include:
aortic intramural haematoma
penetrating atherosclerotic ulcer
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)
Acute respiratory distress syndrome (ARDS) is a form of acute lung injury (ALI) and occurs as a result of severe pulmonary injury that cause alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury.
Acute spinal cord ischaemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and prognosis is generally poor.
Acute spinal cord ischaemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demo...
The Adams-Oliver syndrome (AOS) is a rare disorder characterised by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects.
polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3
Adie syndrome was named after the British physician and neurologist William John Adie (b. 1886 - d. 1935).
It consists of a classic triad of:
absent deep tendon reflexes, e.g. ankle jerk
an Adie pupil: tonically dilated and responds poorly or not at all to light
It is thought ...
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases).
The typical presentation in infancy is with a triad of:
infantile spasms: salaa...
Alagille syndrome (AGS) is a congenital genetic multi-system disorder.
Infants typically present with symptoms relating to the liver where is it one of the most common causes of hereditary cholestasis.
AGS is inherited in an autosomal fashion with a mutation of...
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 leukemia who are on therapeutic all-trans-retinoic acid (ATRA).
All-trans-retinoic acid (ATRA) is a normal constituent of plasma. ...
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
Alport syndrome is an X-linked recessive disease characterised by:
sensory neural hearing loss: typically high frequency 2
anterior lenticonus: most common ocular abnormality; may result in cataracts
perimacular pigmentary changes
flecks around the fovea 2...
Amelia refers to a skeletal dysplasia characterised by the complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocoele and diaphragmatic hernias 3.
Amelia is a very rare congenital anomalies with incidence...
Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities which result from entrapment of various fetal parts from a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a very unique deficit.
The phenomenon is ...
Androgen insensitivity syndrome (AIS), also known as the testicular feminisation syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
The incidence may vary dependent on whether it i...
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...
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...
Anterior cord syndrome (also known as Beck's syndrome or anterior spinal artery syndrome) is a clinical subset of spinal cord injury syndromes, due to ischaemia/infarction of the anterior two-thirds of the spinal cord, typically sparing posterior third.
Patient present wi...
Anti-synthetase syndrome (ASS) is a systemic, inflammatory, autoimmune disease that is characterised by inflammatory myositis, polyarthritis associated with interstitial lung disease (ILD) and anti-synthetase autoantibodies.
ASS can result from autoantibodies to eight of the aminoacy...
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...
Pulmonary involvement in antiphospholipid syndrome is one of the most frequent artial complications of antiphopholipid syndrome.
It is essentially related pulmonary arterial microthrombosis although a wide spectrum of conditions can result which include 3-5
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
The estimated incidence is at 1:65-80,000 pregnancies.
Thought to occur from a defect on the fibroblast growth factor receptor...
Asherman syndrome (AS), also known as uterine synechiae, is a condition characterised by formation of intrauterine adhesions. It results from injury to the endometrium, and is often associated with infertility.
There is a tendency for the condition to develop soon after a pregnanc...
Asphyxiating thoracic dysplasia (also known as Jeune syndrome) is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Asplenia syndrome (also known as right isomerism or Ivemark syndrome) is a type of heterotaxy syndrome.
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates.4
In contrast to polysplenia syndrome, most patients die bef...
Ataxia telangiectasia is a rare multisystem disorder which carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterised by multiple telangiectasias, cerebellar ataxia, pulmonary infections and immunodeficiency.
On brain imaging, it usually demonstrate...
AVID (Asymmetric Ventriculomegaly, Interhemispheric cyst and Dysgenesis of the corpus callosum) is a recently recognised triad of congenital cerebral anomalies.
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morpholog...
Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.
There are no formal diagnostic criteria for this disease, but characterist...
Bardet-Biedl syndrome (BBS) previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive hereditary condition.
The clinical spectrum includes
retinal anomalies: similar to that of retinitis pigmentosa
Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.
It is characterised by:
fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- le...
Bartter syndrome is a rare inherited renal disorder.
Bartter syndrome is characterised by hyperplasia of the juxtaglomerular cells along with:
hypotension or normotension
elevated plasma renin
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set features that can consist of:
macroglossia: most common clinical finding 4
otic dysplasia ref
localised gigantism / macrosomia
Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus resulting in an ipsilateral CN III palsy and crossed hemiataxia and chorea 2.
Using imaging alone, it is difficult to distinguish Benedikt fr...
Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae (LSTV) and low back pain, and can be an important cause in young patients.
It is considered controversial and has been both supported and disputed since Mario Bertolotti first described it in 1917. Some st...
Biceps chondromalacia is an attritional lesion of the humeral head caused by repeated abrasion by the intra-articular segment of the long head of biceps tendon.
The long head of biceps brachii arises from the supraglenoid tubercle of the glenoid fossa and has intrarticular and extra-...
Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of the vitamin B7 (biotin), resulting in low levels of available biotin.
Profound deficiency (<10% of normal level) is estimated at ~1:100,000 of newborn...
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)
cutaneous manifestations (angiofibromas, perifoll...
Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterised by multifocal venous anomalies. Patients often have multiple soft blue skin lesions associated with multiple bowel venous malformations, which could lead to lower gastrointestinal bleeding.
Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. It is caused by a misdirection of the regenerating autonomic fibers to the lacrimal gland instead of to the salivary gland.
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...
Brown-Séquard syndrome is the result of a hemicord lesion (i.e. damage or impairment to the left or right side of the spinal cord).
Due to some fibres crossing within the cord whilst others cross in the brainstem, the neurology is bilateral, namely 1:
Budd-Chiari syndrome refers to the clinical picture that occurs when there is obstruction of the hepatic veins.
Budd-Chiari syndrome is rare, but the exact frequency is unknown. In Western populations, the most common cause is thrombosis. Membranous webs have been increasingly de...
Buried bumper syndrome (BBS) is a rare but important complication in patients with percutaneous endoscopic gastrostomy (PEG) tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening co...
Caffey disease or infantile cortical hyperostosis 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 also reported and it is severe and fatal.
Children usually p...
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia.
Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Diagnosis is usually readily made at birth or with antenatal ultrasound. It is...
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD), is a rare autosomal dominant sclerosing bony dysplasia. It begins in childhood and follows a progressive course.
Common symptoms include extremity pain, muscle weakness, cranial nerve ...
Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion.
Occurs equally between the sexes, most commonly in the 40-70 year age group 3.
Diarrhoea is the most common and earliest symptom but others...
Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome, which is autosomal dominant and characterised by 1-4:
seen in two-thirds of patients with Carney complex
skin pigmentation (blue naevi): especially of the ...
The Carney triad (not to be confused with the Carney complex) is a rare syndrome defined by the coexistence of three tumours:
extra-adrenal paraganglioma (e.g. extra-adrenal phaeochromocytoma): initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes ...
Carotidynia or (Fay syndrome) is a rare syndrome characterised by neck pain in the region of the carotid bifurcation. There is confusion in the literature as to what this term actually refers to, with some authors suggesting that the term should be reserved for a pain syndrome with no structural...
The carpal boss is an unmovable hypertrophied bony protuberance at the base of the second or third metacarpals on the dorsal surface, near the capitate and trapezium.
The condition may represent either or a combination of:
degenerative osteophyte formation
os styloideum (an access...
Carpal tunnel syndrome (CTS) 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.
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder
It is characterized by number of features which include:
kleeblattschädel (cloverleaf ...
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.
Cavitary mesenteric lymph node syndrome (CMNLS) is seen in association with coeliac disease and is characterised by the triad of:
low-attenuation lymphadenopathy that sometimes contains fat-fluid levels
Central cord syndrome (CSS) 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 CCS occurs in older...
Cerebral hypoventilation syndrome refers to a congenital condition characterised by hypoventilation during sleep with no other abnormalities of cardio-respiratory system. There is a decrease in the depth of breathing .
It is also known as Congenital central hypoventilation syndrome (CCHS) or On...
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.
Signs and symptoms usually become first evident in childhood. Typically this sta...
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
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 ...
CHILD syndrome is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. It comprises of:
Ch: congenital hemidysplasia
I: ichthyosiform erythroderma
develops at or shortly after birth
unilateral erythema and scaling, with a distinct demarcation in the middl...
Chinese paralytic syndrome also known as acute motor axonal neuropathy (AMAN) is characterised progressive symmetric flaccid paralysis with areflexia. It is a pure motor axonopathy and a variant of Guillain-Barré syndrome
Chronic recurrent multifocal osteomyelitis (CRMO) is primarily a diagnosis of exclusion. It is an idiopathic inflammatory disorder of bone seen primarily in children and adolescents.
Females are more commonly affected than males.
The typical clinical pictur...
Clasp-knife syndrome (also called spina bifida engagement syndrome or spina magna or long spinous process syndrome) is one of the low back pain causes.
When a Clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlarged spinous process (knife blade) into the...
Claude syndrome is one of the brainstem stroke syndromes in which there is infarction of the dorsomedial aspect of the midbrain secondary to occlusion of the small perforating branches of the posterior cerebral artery supplying this area. The infarction involves the medial aspect of red nucleus ...
Clinically isolated syndrome (CIS) is the first episode suggestive of demyelination. It can either be monofocal (single lesion) or multifocal. Not all patients with CIS will go on to develop multiple sclerosis (MS) however if at presentation there are changes on MRI suggestive of MS, then the ch...
CLOVE syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Abnormalities have a truncal predominance.
Associated findings include:
wide feet and hands
Cockayne syndrome (CS) is a rare autosomal recessive dysmyelinating disease. CS is classified among the childhood leukodystrophies,and brain imaging findings are cardinal features suggesting the diagnosis of CS. Previously published CS imaging studies have described major brain atrophy, calcific...
Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.
It occurs more frequently in females (with a M:F of ~4:1).
It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined.
Cogan syndrome is a rare vasculitis of children and young adults which primarily characterised by 1,4,6:
inflammatory eye disease (ocular keratitis, uveitis, scleritis, optic neuritis) 6
audiovestibular symptoms (similar to Meniere disease) 6
However, it can potentially affect a multitude of ...
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)
Congenital high airways obstruction syndrome (CHAOS) refers a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway.
CHAOS can be of three possible types 2:
complete laryngeal atresia without an oesophageal f...
Congenital pulmonary venolobar syndrome is a condition comprised of a rare group of cardiac and pulmonary congenital abnormalities occurring variably in combination. The abnormalities include:
anomalous pulmonary venous drainage
particularly scimitar syndrome with hypogenic right lung
Conn syndrome (or primary hyperalderosteronism) is a condition of excess of aldosterone production and occurs secondary to adrenal cortical adenoma, bilateral adrenal hyperplasia, or rarely, adrenal carcinoma. Differentiation between the causes is required to avoid unnecessary surgery.
Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome.
The conus medullari...
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...
Cronkhite–Canada syndrome is a type of non-hereditary hamartomatous polyposis syndrome characterised by rash, alopecia, and watery diarrhea.
There is a recognised male predilection. Patients typically are middle age, in their 60th 1.
Patients typically pres...
Crouzon syndrome is rare disorder characterised by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exopthalmos
mid facial hypoplasia
It carries an autosomal...
Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy which can occur from a pathological compression of the ulnar nerve at the cubital tunnel.
It is the second most common peripheral neuropathy of the upper extremity 1,3.
Ulnar nerve comp...
Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterised by the triad of:
hypoplasia of the vermis and cephalad rotation of the vermian remnant
cystic dilatation of the fourth ventricle extending posteriorly
enlarged posterior fossa with torcular-lambdoi...
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...
Disc herniation refers to displacement of intervertebral disc material beyond the normal confines of the disc, but involving less than 25% of the circumference (to distinguish it from a disc bulge. A herniation may contain nucleus pulposus, vertebral endplate cartilage, apophyseal bone/osteophyt...
Distal intestinal obstruction syndrome (DIOS) is one the of many abdominal manifestations of cystic fibrosis. In older children or young adults with cystic fibrosis, the distal small bowel may become obstructed with mucofaeculent material in the distal ileum and right colon.
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...
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life.
Patients usually present in first six months to one year of life with tonic-clonic seizures in a febrile ch...
Dressler syndrome (DS) is the delayed immune-mediated or secondary pericarditis developing weeks to months after a myocardial infarction (MI).
DS is not be confused with pericarditis epistenocardica (which is seen earlier post MI) and is considered a rare phenomenon in the era of r...