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≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome, Trisomy 21 campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion ...

18q syndrome

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 abnorma...

1p36 deletion syndrome

1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterised most commonly by a deletion in the distal segment of the short arm of chromosome one 1. Epidemiology The 1p36 deletion syndrome is present in approximately 1 in 5000 live births. It is the most common terminal...

4D syndrome

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 ...

Aarskog syndrome

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. Epidemiology Population pre...

Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder. Clinical features congenital hypoplastic anaemia - fetal anaemia triphalangeal thumbs broad thumb abnormal clavicles cleft lip, cleft palate hypoplastic radii hydrocephalus (due to Dandy-Walker anomaly) joi...

Accessory navicular syndrome

Accessory navicular syndrome occurs when a type II accessory navicular (or "os tibiale externum") becomes painful due to movement across the pseudojoint between the ossicle and the navicular bone. Radiographic features Ultrasound It can be inferred on musculoskeletal ultrasound if a patient's...

Achondrogenesis

Achondrogenesis refers to a group of rare and extreme skeletal dysplasias. Epidemiology The estimated incidence is 1:40,000 with no recognised gender predilection. Pathology It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. Subtypes T...

Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) is a rare group of disorders collectively characterised by: calvarial anomalies, e.g. craniosynostoses digital anomalies, e.g. syndactyly Classification While there can be some overlap in features, they can be primarily classified into the following majo...

Acrodysostosis

Acrodysostosis is a rare skeletal dysplasia characterised by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, mental retardation and deafness. Pathology Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to occur...

Acute aortic syndrome

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 dissection aortic intramural haematoma penetrating atherosclerotic ulcer ...

Acute compartment syndrome

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. Epidemiology Acute compartment syndrome is more comm...

Acute coronary syndrome

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 (NSTEMI) unstable an...

Acute respiratory distress syndrome

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. Pathology...

Acute spinal cord ischaemia syndrome

Acute spinal cord ischaemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor. Epidemiology Acute spinal cord ischaemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demographic o...

Adams-Oliver syndrome

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. Associations polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3

Adie syndrome

Adie syndrome consists of a classic triad of: diaphoresis 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 to result from damage to the ciliary ganglion and the dorsal root ganglion by viral or bacterial in...

Aicardi syndrome

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). Clinical features The typical presentation in infancy is with a triad of: infantile spasms: salaa...

Alagille syndrome

Alagille syndrome (AGS) is a congenital genetic multi-system disorder. Clinical presentation Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis. Genetics AGS is inherited in an autosomal fashion with a mutation of...

Allgrove syndrome

Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings: achalasia alacrima ACTH insensitivity

All-trans retinoic acid syndrome

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....

Alpha thalassemia/mental retardation syndrome X-linked (ATRX)

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX wild-type) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion and p53 expression 1,2. ATRX and ID...

Alport syndrome

Alport syndrome is an X-linked dominant disease characterised by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions. Clinical presentation haematuria sensorineural hearing loss: typically high frequency 2 ocular abnormalities anterior lenticonus: most commo...

Amelia

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. omphalocele and diaphragmatic hernias 3. Epidemiology Amelia is a very rare congenital anomaly with an incidence...

Amniotic band syndrome

Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit. Epidemiology The phenomen...

Androgen insensitivity syndrome

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. Epidemiology The incidence may vary depending on whether it i...

Anterior ankle impingement syndrome

Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus. Clinical presentation Clinical features of anterior ankle impingement syndrome include painful and limited dorsiflexion and anterior joint line swellin...

Anterior choroidal artery syndrome

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...

Anti-GQ1b IgG antibody syndrome

Anti-GQ1b IgG antibody syndrome refers to a number of conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical spectrums. The conditions believed to represent various clinical manifestations of a common immunological disorder include 1: acute ophth...

Antiphospholipid syndrome

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. Clinical presentation Antiphospholipid syndrome is characterised by veno...

Antiphospholipid syndrome (pulmonary manifestations)

Pulmonary involvement in antiphospholipid syndrome is one of the most frequent arterial complications of antiphospholipid syndrome. Pathology It is essentially related to pulmonary arterial microthrombosis and may cause a wide spectrum of conditions, which include 3-5: pulmonary thromboembol...

Anti-synthetase syndrome

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. Pathology ASS can result from autoantibodies to eight of the aminoacy...

Antley-Bixler syndrome

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. Epidemiology Very rare condition with only 50 cases described in th...

Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations. Epidemiology The estimated incidence is at 1:65-80,000 pregnancies. Pathology Thought to occur from a defect on the fibroblast growth factor receptor...

Asherman syndrome

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. Epidemiology There is a tendency for the condition to develop soon af...

Asphyxiating thoracic dysplasia

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

Asplenia syndrome (also known as right isomerism or Ivemark syndrome) is a type of heterotaxy syndrome. Epidemiology There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates.4 Clinical manifestation In contrast to polysplenia syndrome, most patients die bef...

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies. Radiographic features markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound. inter...

Ataxia telangiectasia

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...

Autonomic dysreflexia

Autonomic dysreflexia (AD) is a life-threatening condition prevalent amongst patients with high spinal cord injury (SCI) and may occur any time after injury. It is a syndrome characterized by an exaggerated reflex increase in blood pressure, usually accompanied by bradycardia in response to a st...

Babinski-Nageotte syndrome

Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome) 1,2. Terminology In many texts this eponymous syndrome is incorrectly attributed to actually being...

Bannayan–Riley–Ruvalcaba syndrome

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

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa mental retardation renal str...

Barth syndrome

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

Bartter syndrome is a rare inherited renal disorder. Pathology Bartter syndrome is characterised by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension or normotension elevated plasma renin elevate aldosterone antenatal polyhydramnios Class...

Beckwith-Wiedemann syndrome

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 omphalocoele localised gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic i...

Benedikt syndrome

Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus. Clinical presentation ipsilateral CN III palsy 1-4 crossed hemiataxia 1-4 crossed choreoathetosis 1-4 Pathology It is usually caused by...

Benign paroxysmal positional vertigo

Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The aetiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posteri...

Bertolotti syndrome

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...

Blue rubber bleb naevus syndrome

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. Path...

Bogorad syndrome

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. Etymology Named afte...

Bouveret syndrome

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. Clinical presentation Bouveret syndrome occurs most commonly in elderly women. The presenting...

Brissaud-Sicard syndrome

Brissaud-Sicard syndrome is a very rare pontine stroke syndrome that involves the anterolateral and inferior pons. Clinical presentation Classically, the syndrome presents as ipsilateral facial cramps and contralateral hemiparesis 1-3. Pathology It has been postulated that the syndrome is ca...

Brown-Séquard syndrome

Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterised by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...

Brown syndrome (orbit)

The Brown syndrome refers to an inability of a patient to perform an upward gaze while the eye is adducted due to an abnormality of the superior oblique tendon sheath complex. History and etymology It was first described by Allan Brown in 1950 1. See also Brown-Sequard syndrome

Budd-Chiari syndrome

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. Epidemiology Budd-Chiari syndrome is rare. ...

Buried bumper syndrome

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

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 ...

Camptocormia

Camptocormia (bent spine syndrome or cyphose hystérique) is a rare syndrome characterised by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when laying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case series (n=16), ...

Camptodactyly arthropathy coxa vara pericarditis syndrome

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 pericardit...

Camptomelic dwarfism

Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia. Epidemiology Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births. Clinical presentation Diagnosis is usually readily made at birth or with antenatal ultrasound. It is...

Camurati-Engelmann disease

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD), is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course. Clinical presentation Common symptoms include extremity pain, muscle weakness, cranial nerve ...

Carcinoid syndrome

Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion. Epidemiology Occurs equally between the sexes, most commonly in the 40-70 year age group 3. Clinical presentation Diarrhoea is the most common and earliest symptom but others...

Carney complex

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: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue naevi): especially of the ...

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma. Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex. Histor...

Carney triad

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 gastric ...

Carotidynia

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...

Carpal tunnel syndrome

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. Epidemiology...

Carpenter syndrome

Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder Clinical spectrum It is characterized by number of features which include: craniofacial malformations craniosynostoses kleeblattschädel (cloverleaf ...

Cauda equina syndrome

Cauda equina syndrome is considered an incomplete cord syndrome, even though it occurs below the conus, and refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is most commonly caused by an acutely extruded lumbar d...

Caudal regression syndrome

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. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The ...

Cavitating mesenteric lymph node syndrome

Cavitary mesenteric lymph node syndrome is seen in association with coeliac disease and is characterised by the triad of: splenic atrophy low-attenuation lymphadenopathy that sometimes contains fat-fluid levels villous atrophy

CEC syndrome

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. Epidemiolog...

Central cord syndrome

Central cord syndrome is the most common type of incomplete spinal cord syndrome, usually the result of trauma, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of a damage to the central portion spinal cord and in the setting of trauma most commo...

Cerebral hypoventilation syndrome

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 disease

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. Epidemiology The prevalence of CMT in one Norwegian study was 82.3 cases per 100,000 people 4. Clini...

CHARGE syndrome

CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders: C: coloboma H: heart defects (congenital heart disease) A: atresia (choanal) R: retardation (mental) G: genital hypoplasia E: ear abnormalities/deafness Clinical...

Chilaiditi syndrome

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

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

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

Chromosome 1q21.1 deletion syndrome

Chromosome 1q21.1 deletion syndrome is a condition caused by the deletion of a short portion of the long arm (q) of chromosome 1 at a locus called q21.1. The disorder demonstrates a heterogenous spectrum of manifestations including delayed milestones, learning difficulties, physical anomalies, c...

Chronic hereditary lymphedema

Chronic hereditary lymphedema or Milroy disease is a condition characterised by lower-limb lymphoedema. Patients typically present with pedal oedema at or before birth or soon after. Occasionally, it develops later in life. Pathology Genetics Mutations in the FLT4 gene is thought to be presen...

Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...

Clasp-knife deformity

Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction. Terminology When a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlarged spinous process (knife blade) into the sacral spinal canal, it is called clasp-k...

Claude syndrome

Claude syndrome is one of the brainstem stroke syndromes in which there is infarction of the dorsomedial aspect of the midbrain. Clinical presentation Clinical picture is characteristic and includes ipsilateral oculomotor nerve palsy and contralateral upper and lower limb ataxia 1-4. Patholog...

CLOVES syndrome

CLOVE syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Abnormalities have a truncal predominance. Associated findings include: wide feet and hands macrodactyly scoli...

Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...

Coeliac artery compression syndrome

Coeliac artery compression syndrome is also known as coeliac axis syndrome, median arcuate ligament syndrome and Dunbar syndrome. It is characterised by upper abdominal angina secondary to compression of the coeliac trunk by the diaphragmatic crurae. Pathology The median arcuate ligament is th...

Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality. Epidemiology It occurs more frequently in females (with a M:F of ~4:1). Pathology Genetics It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined. Cli...

Cogan syndrome

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

Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition which can affect the extremities in a wide clinical spectrum. Terminology Two types of CRPS have been described 8: type 1: no underlying single nerve lesion (formerly known as reflex sympathetic dystrophy) ty...

Congenital high airways obstruction syndrome

Congenital high airways obstruction syndrome (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway. Pathology CHAOS can be of three possible types 2: complete laryngeal atresia without an oesophagea...

Congenital pulmonary venolobar syndrome

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 pulmona...

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