Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

88 results found
Article

18q syndrome

18q syndrome is a rare chromosomal anomaly where there is 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...
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22q11.2 deletion syndrome

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. Epidemiology The estimated incidence is a...
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Aase-Smith syndrome

Aase-Smith 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) joint contractures na...
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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
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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...
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Alagille syndrome

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

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...
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Beckwith-Wiedemann syndrome

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 omphalocoele localised gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic isle...
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Caffey disease

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 ...
Article

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...
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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 ...
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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...
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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 Patholog...
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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...
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Chronic recurrent multifocal osteomyelitis

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. Epidemiology Females are more commonly affected than males. Clinical presentation The typical clinical pictur...
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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...
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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...
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Congenital high airways obstruction syndrome

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. Pathology CHAOS can be of three possible types 2: complete laryngeal atresia without an oesophageal f...
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Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus, when it is considered a type o...
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Crouzon syndrome

Crouzon syndrome is rare disorder characterised by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exopthalmos mid facial hypoplasia bifid uvula Genetics It carries an autosomal...
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Dravet syndrome

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. Clinical presentation Patients usually present in first six months to one year of life with tonic-clonic seizures in a febrile ch...
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Duane radial ray syndrome

Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
Article

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses. Epidemiology The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
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Ectrodactyly-ectrodermal dysplasia-clefting syndrome

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of  ectrodactyly  +/- syndactyly 1 +/- polydactyly 5 ectrodermal dysplasia facial clefts: cleft lip and/or palate Pathology Genetics ...
Article

Edwards syndrome

Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy13), make up the only three trisomies to be compatible with extra-uterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.  Epidemiology After Down...
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Eisenmenger syndrome

Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal. Epidemiology In general, the shunts that lead to Eisenmenger syndrome share are high pressure and high flow 3. As su...
Article

Enchondromatosis

Enchondromatosis, also known as Ollier disease, is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas that are principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromatosis on the basis ...
Article

Fatco syndrome

Fatco syndrome is a syndrome consisting of fibular aplasia tibial campomelia and oligosyndactyly. It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Differential diagnosis Fuhrmann syndrome and Al-Awadi syndrome are said to be similar to FA...
Article

Fraser syndrome

Fraser syndrome is an extremely rare congenital syndromic anomaly.  Epidemiology The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths. Clinical spectrum The syndromic spectrum can comprises of: cryptophthalmos syndactyly: often cutaneous tracheal atr...
Article

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterised by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori/Forbe disease type IV: Andersen diseas...
Article

Goldenhar syndrome

Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterised by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at  1 in 3000-500...
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Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.  History and etymology It is named after Manuel ...
Article

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...
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Heiner syndrome

The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk.  The syndrome includes rectal blood loss with hypochromic microcytic anaemia pulmonary infiltrates (often recurrent) hypoproteinaemia See also pulmonary haemosiderosis
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Hemiconvulsion-hemiplegia epilepsy syndrome

Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy. It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Article

Hemihyperplasia

Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Article

Heterotaxy syndrome

Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left and right distribution of the thoracic and abdominal organs which does not entirely correspond to the complete or partial mirror image. It occurs ...
Article

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry is the characteristic enlargement of one of the ischiopubic synchondroses. While it most commonly a normal variant of the developmental process, it is sometimes thought to be syndromic (then called ischiopubic synchondrosis syndrome or van Neck-Odelberg diseas...
Article

Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
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Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance. Clinical presentation There is a wide variability in the clinical presentation, but common features are: low birth weight hyp...
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Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS) (also knwon as the oro-cranio-digital syndrome) is a rare autosomal recessive syndrome characterised by the association of  growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomalies triphalang...
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Juvenile polyposis syndrome

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps. Epidemiology Presentation in the second decade is most common 2. Clinical presentation Rectal bleeding, bowel obstruction and intussuscept...
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Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Pathology The cause for t...
Article

Kartagener syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by abnormal ciliary structure and/or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000...
Article

Kasabach-Merritt syndrome

Kasabach-Merritt syndrome (also known as haemangioma thrombocytopaenia syndrome) is a rare life-threatening disease found in infant in which a rapidly growing vascular tumour is responsible for thrombocytopaenia, microangiopathic haemolytic anemia and consumptive coagulopathy. Pathology Vascul...
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Klinefelter syndrome

Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal testes...
Article

Klippel-Feil syndrome

Klippel-Feil syndrome (KFS) is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis. Epidemiology There is a recognised female predilection 1. KFS has an incidence of 1:40,000-42,000 2. Clin...
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Labrune syndrome

Labrune syndrome (LS) is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and cysts. Epidemiology LS is an extremely rare condition, with no more than 10 cases reported in literature 2. The onset occurs from early infancy to adolescence; few cases have...
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LEOPARD syndrome

LEOPARD syndrome (LS) is a rare autosomal dominant hereditary disorder. It is an acronym not the following set of features L: lentigenes (multiple) E: ECG conduction abnormalities O: ocular hypertelorism P: pulmonary stenosis A: abnormal genitals R: retardation of growth D: deafness (sens...
Article

Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome​ is, as the name suggests, characterised by the association of omphalocele and cleft palate.  Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition. History and etymol...
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McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
Article

Meconium plug syndrome

Meconium plug syndrome refers to a functional colonic obstruction in a newborn due to an obstructing meconium plug. It is usually transient and affects the left colon with meconium plugging the bowel distal to this segment. In this situation it is also termed the small left colon syndrome. Path...
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Menkes disease

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.  Epidemiology Menk...
Article

MERRF

MERRF (myoclonic epilepsy with red ragged fibres) is a rare, multisystem mitochondrial disorder.  Clinical presentation Patients usually present in late adolescence or early adulthood with 1,2,3 myoclonus epilepsy cerebellar ataxia intellectual disability vision and/or hearing loss cardi...
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Möbius syndrome

Möbius syndrome is a rare congenital condition characterised by the absence or underdevelopment of the abducens nerve (CN VI) and facial nerve (CN VII) nuclei. Epidemiology It is estimated that there is ~1 case per 100,000 births 4. Clinical presentation The earliest sign is the inability of...
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Morquio syndrome

Morquio syndrome is an autosomal recessive mucopolysaccharidosis (MPS), type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Clinical features: severe dwarfism (<4 foot) joint laxity corneal op...
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Mucopolysaccharidoses

The mucopolysaccharidoses constitute a group of hereditary disorders having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes. Several distinctive types of mucopolysaccharidoses have been described, each with distinctive clinical and radiol...
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Norrie disease

Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss. 
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Occipital horn syndrome

Occipital horn syndrome is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. The Menkes 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 cutis lax...
Article

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.  Epidemiology The es...
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Pepper syndrome

Pepper syndrome is of interest only (the term is not readily used in day-to-day practice), and refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). 
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Pre-axial polydactyly

Pre-axial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially).  Epidemiology Pre-axial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000. Pathology Associations Pr...
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Proteus syndrome

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 ...
Article

Prune belly syndrome

Prune belly syndrome is a rare anomaly comprising a specific constellation of features. It consists of three major findings: gross ureteric dilatation anterior abdominal wall underdevelopment (resulting in the "prune belly" appearance) bilateral undescended testes (cryptorchidism) i...
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Raghib syndrome

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 of th...
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Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion, and usually with associated bronchiectasis.  Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). It ...
Article

Roberts syndrome

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. Clinical features general intrauterine growth restriction (IUGR) post-natal grow...
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Robin sequence

Robin sequence (also called Pierre Robin syndrome or Pierre Robin anamaloid) is a congenital condition characterized by facial abnormalities. Its aetiology has no genetic base, but rather, is reliant on a sequence of events, one following the other. Terminology Robin sequence is the preferred ...
Article

Sakati-Nyhan syndrome

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: craniofacial defects congenital limb abnormalities congenital heart defects History and etymology It w...
Article

Scimitar syndrome

Scimitar syndrome, also known as hypogenetic lung syndrome, is characterised by a hypoplastic lung that is drained by an anomalous vein into the systemic venous system. It is a type of partial anomalous pulmonary venous return and is one of several findings in congenital pulmonary venolobar synd...
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Shone syndrome

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
Article

SHORT syndrome

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...
Article

Sturge-Weber syndrome

Sturge-Weber syndrome (SWS), 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). Epidemiology It is a rare...
Article

TAR syndrome

TAR syndrome stands for thrombocytopaenia with absent radius and as the name implies is primarily characterised by the following two features: fetal thrombocytopaenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estima...
Article

Ulnar dimelia

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. Pathology Embryology The embryology of mi...
Article

VACTERL association

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. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Pathology The acronym VACTERL derives from: V: vertebral an...
Article

VATER

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 Epidemiology The prevalence of at least 3/5 anomalies oc...
Article

WAGR syndrome

The WAGR syndrome stands for: Wilms tumours (greatly increased risk) aniridia genital anomalies mental retardation Pathology Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to WT1 gene. 
Article

Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Article

Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...
Article

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial delection of the p arm of chromosome 4 (4p16.3). Clinicopatholigical spectrum CNS agenesis of the corpus callosum hypertelorism coloboma craniofacial calvarial asymmetry cleft lip + / - palat...
Article

Wolman disease

Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.  Clinical presentation Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhoea and vomiting. Abdominal di...
Article

Wyburn-Mason syndrome

Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...
Article

Yunis-Varón syndrome

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges of fingers hypoplasia ...
Article

Zuezler-Wilson syndrome

The Zuezler-Wilson syndrome (total colonic aganglionosis) is a subset of Hirschsprung disease, in which the whole colon is aganglionic. It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3. Multiple procedures have been devised to treat the condition, including proctocolectom...

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