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.

116 results found
Article

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...
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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...
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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 it is 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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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...
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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...
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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 of features that can consist of: macroglossia: most common clinical finding 4 otic dysplasia ref omphalocoele localised gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic i...
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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 ...
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 ...
Article

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...
Article

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...
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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 hereditary lymphedema

Chronic hereditary lymphedema or Milroy disease is a condition characterised by lower-limb lymphedema. 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 present...
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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...
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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 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...
Article

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 dominant ...
Article

Currarino-Silverman syndrome

Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder in which the patient has a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centres. Congenital heart diseases have been described in mor...
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Currarino syndrome

The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.  anorectal malformation or con...
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Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed. Clinical presentation Injuries involving the teg...
Article

Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumour gene) and consists of: Wilms tumour male pseudohermaphroditism progressive glomerulonephritis
Article

Dravet syndrome

Dravet syndrome, 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 The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures in a fe...
Article

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).
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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 (trisomy 13), make up the only three trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.  Epidemiology After Down...
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

Febrile infection-related epilepsy syndrome

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. Terminology FIRES has received several names in the literature: acute encep...
Article

Femoral facial syndrome

Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1. Clinical presentation Femoral facial syndrome can cause varying degrees of femoral malformation rang...
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

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterised by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
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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 or Forbes disease type IV: Andersen di...
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Glycogen storage disease type I

Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel 1. Epidemiology It occurs approximately one in every 100,000 live births ...
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...
Article

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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Haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome, is a non-malignant disorder of immune regulation characterised by overproduction of cytokines and diminished immune surveillance. It may affect multiple organs and is one of the few entities which demonstrat...
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Hand-foot syndrome (chemotherapy)

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.  Causative drugs Many chemotherapeuti...
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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...
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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

Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis, is an autosomal dominant condition, characterised by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in fem...
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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

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...
Article

Ischiopubic synchondrosis asymmetry

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...
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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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Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
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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...
Article

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:  growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomal...
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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...
Article

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 an abnormal ciliary structure 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 thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumour is responsible for thrombocytopenia, microangiopathic haemolytic anaemia and consumptive coagulopathy. Pathology Vascul...
Article

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 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. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Article

Leaky lung syndrome

Leaky lung syndrome refers to a form of non-cardiogenic pulmonary oedema. Pathology Pulmonary oedema due to increased capillary permeability.   Radiographic features 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...
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 1. History and etymolog...
Article

Leukoencephalopathy with calcifications and cysts

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. Epidemiology Leukoencephalopathy with calcifications and cysts is an extremely rare condition, w...
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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
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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. Pat...
Article

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterised by early brain overgrowth and body morphogenesis an...
Article

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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Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets Pena and Vaandrager type - intermedi...
Article

Möbius syndrome

Möbius syndrome, also known as congenital facial diplegia 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 Möbius syndrome is rare with an estimated incidence of ~1 case per 10...
Article

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 opaci...
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Mucopolysaccharidoses

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...
Article

Nail-patella syndrome

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. Clinical presentation ...
Article

Nephrotic syndrome

Nephrotic syndrome (NS) results from loss of plasma proteins in the urine and characterised by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and oedema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with ...
Article

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome. Clinical presentation Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarise the clinical feat...
Article

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. 
Article

Occipital horn syndrome

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...
Article

Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder. Epidemiology OS-CS is extremel...
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...
Article

PELVIS syndrome

PELVIS or LUMBAR syndrome is the combination of pelvic haemangiomas with other extracutaneous abnormalities. The syndrome may be incomplete.   Pathology PELVIS perineal haemangiomas external genital malformations lipomyelomeningocele vesicorenal anomalies imperforate anus skin tag LUMBA...
Article

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). 
Article

PHACE syndrome

PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: haemangiomas A: arterial anomalies C: coarctation of the aorta and ...
Article

Post-axial polydactyly

Post-axial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th toe. Epidemiology Post-axial polydactyly is more common than pre-axial polydactyly, with an estimated incidence of 1 in 3000. Pathology Classification Post-axial...
Article

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 Pre...
Article

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

Raghib syndrome

Raghib syndrome is a rare developmental complex. It consists of: persistence of the left superior vena cava coronary sinus ostial atresia atrial septal defect It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...
Article

Raine Syndrome

Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications.  Many individuals with this disorder are stillborn or die as neonates 4. ...
Article

Right middle lobe syndrome

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

Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth retardation failure to thrive thrombocytope...
Article

SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies. Pathology Genetics The syndrome results from a mutation in ...
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...

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