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.

163 results found
Article

≤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...
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18q-deletion syndrome

18q-deletion 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 do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial and dista...
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Aase-Smith syndrome

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

Abdominal migraine (AM) is a syndrome which presents as recurrent episodes of severe abdominal pain, coupled with vasomotor symptoms, nausea and emesis. Historically it has tended to be a pediatric diagnosis, but is now increasingly seen in adults. It is one of the functional gastrointestinal di...
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Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized 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 maj...
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Adams-Oliver syndrome

The Adams-Oliver syndrome (AOS) is a rare disorder characterized 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-Goutières syndrome

Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy with systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...
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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). Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after J...
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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 Alagille syndrome is inherited in an autosomal fashion with...
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Alpers syndrome

Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.  Epidemiology Alpers syndrome is incredibl...
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Antley-Bixler syndrome

Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common. Epidemiology It is a very rare condition with only 50 cas...
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Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. Epidemiology The estimated incidence is 1 case per 65-80,000 pregnancies. Risk factors increased paternal age has been proposed 6 Associations CNS ...
Article

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 be...
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Athlete heart syndrome

Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise. Epidemiology The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...
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Barth syndrome

Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy. Epidemiology Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births. Clinical presentation It is characte...
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Bartter syndrome

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

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by a unique set of features that can consist of: macroglossia: most common clinical finding 4 otic dysplasia ref omphalocoele localized gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic i...
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Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...
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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. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...
Article

Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized 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 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 vast m...
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Cerebellar mutism syndrome

Cerebellar mutism syndrome usually develops after resection of midline cerebellar or intraventricular tumors in the posterior fossa. Typical features of this condition are transient mutism, ataxia, hypotonia, and irritability. Terminology The nomenclature of this syndrome has considerable conf...
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Cerebral hypoventilation syndrome

Cerebral hypoventilation syndrome refers to a congenital condition characterized 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 of growth and development G: genital and/or urinary abnormalities E: e...
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CHILD syndrome

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome comprises: Ch: congenital hemidysplasia I: ichthyosiform erythroderma develops at or shortly after birth unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk 2 hair ...
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Chromosomal anomalies

There are large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies. They can cause a variable degree of handicap with outcomes ranging from no effect (in some balanced translo...
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Chronic hereditary lymphedema

Chronic hereditary lymphedema (also known as Milroy disease) is a condition characterized by lower limb lymphedema. Patients typically present with pedal edema at or before birth or soon after. Occasionally, it develops later in life. Pathology Genetics Mutations in the FLT4 gene are thought ...
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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

CLOVES syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Terminology Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
Article

Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality. Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome. Epidemiology It occurs more frequently in females (with a M:F of ~4:1). Clinical presentation One of the most typical features is absence o...
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Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) (also known as Beals syndrome) is a rare connective tissue disorder that bears phenotypic similarities to Marfan syndrome, but is genetically distinct. Affected individuals have arachnodactyly, muscle contractures and ear anomalies, but without any oc...
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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 characterized by obstruction to the fetal upper airway. Pathology CHAOS can be of three possible types 2: complete laryngeal atresia without an esophageal...
Article

Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterized 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 nevus, when it is considered a type of...
Article

Crouzon syndrome

Crouzon syndrome is rare disorder characterized by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exophthalmos 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. Clinical presentation Patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centers. Congenital heart diseases have...
Article

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...
Article

Cystinosis

Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders.  Epidemiology It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy.  Clinica...
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Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischemic 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 tegm...
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Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor 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).
Article

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses. Epidemiology The incidence is estimated at ~1:1,000,000 3. There is a recognized 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 ...
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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...
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Eisenmenger syndrome

The 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 high pressure and high flow 3. As su...
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Familial adenomatous polyposis syndrome

Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
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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

Fowler syndrome

Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition. Terminology Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting ...
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F. P. Weber syndrome

F. P. Weber syndrome (FPWS) is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classification of CVMs. In his origin...
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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 comprise of: cryptophthalmos syndactyly: often cutaneous tracheal atre...
Article

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized 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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Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
Article

Gillespie syndrome

Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unch...
Article

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized 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. Epidemiology It occurs approximately one in every 100,000 live births 2,...
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 characterized by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at 1 in 3000-5000...
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Gomez-Lopez-Hernandez syndrome

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

Greig cephalopolysyndactyly syndrome

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare pleiotropic, multiple congenital anomaly syndrome.  It is primarily characterized by: polydactyly-polysyndactyly: preaxial polydactyly (most common 2) or mixed pre- and postaxial polydactyly true ocular hypertelorism macrocephaly f...
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Hemoglobinopathies

A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae. Clinical presentation Clinical presentation varies, is related to hypoxia, and characteristically includes the fo...
Article

Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syndrom...
Article

Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder, is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. Epidemiology It typically affects infants and young c...
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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 characterized by a widespread erythema, edema and ulceration of the hands and feet.  Causative drugs Many chemotherapeutic...
Article

Heiner syndrome

The Heiner syndrome is a rare form of primary pulmonary hemosiderosis associated with an allergy to cow's milk. The syndrome includes: rectal blood loss with hypochromic microcytic anemia pulmonary infiltrates (often recurrent) hypoproteinemia See also pulmonary hemosiderosis
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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

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...
Article

Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomp...
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

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness and cardiac disease. Death usually occurs within the fi...
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 (also known as van Neck-Odelberg disease) 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 ...
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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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...
Article

Johanson-Blizzard syndrome

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

Juberg-Hayward syndrome

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

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. Clinical presentation cha...
Article

Kartagener syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized 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 hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy. Pathology Vascular t...
Article

Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized 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 te...
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 recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Article

Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias. Entities included in a differential for the class are: congenital bowing of the long bones cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type) ...
Article

Leaky lung syndrome

Leaky lung syndrome refers to a form of non-cardiogenic pulmonary edema. Pathology Pulmonary edema 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 s...
Article

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...
Article

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological/ behavioral problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern. Epidemiology It often appears between the 2nd and 6th years ...
Article

Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterized 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 edematous cysts. Epidemiology Leukoencephalopathy with calcifications and cysts is an extremely rare condition, wi...
Article

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A. The syndrome's key characteristics are: phal...
Article

Marshall-Smith syndrome

Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum. Clinical presentation general fetal macrosomia failure to thrive skelet...
Article

McKusick Kaufman syndrome

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

Meckel-Gruber syndrome

Meckel-Gruber syndrome (MGS) is classically characterized by the triad of: renal cystic dysplasia: multiple renal cysts (present most cases) occipital encephalocoele/holoprosencephaly (~70%) postaxial polydactyly: usually hexadactyly (~65%) Additional hepatic developmental defects and hepati...

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