Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular etiology.
Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHT pat...
The group of the most common congenital infections are referred to by the mnemonic TORCH or STORCH. They usually cause mild maternal morbidity, but are related to serious fetal consequences 4.
O: other (e.g. syphilis, varicella-zoster, parvovirus B19)
Congenital insensitivity to pain (CIP) refers to a group of rare hereditary sensory and autonomic neuropathies (HSANs) characterized by an inability to feel pain 1.
Although not clearly defined in the literature, CIP is not one specific diagnosis, but describes symptoms common to m...
Congenital limb amputation is the absence of a fetal limb or part of a limb that usually occurs due to disruption of vascular supply.
Congenital amputations occur in 0.5 (range 0.03-1) per 1000 live births 2.
They are slightly more common in the upper limb (60%) than ...
Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate's lung.
On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with o...
Congenitally corrected transposition of the great arteries, also known as levo- or L-loop transposition (L-TGA), is a rare cardiovascular anomaly with inversion of the ventricles and great arteries.
This anomaly comprises less than 1% of all congenital heart diseases 1,2,7.
Congenital megacalyces is an incidental finding which mimics hydronephrosis. It is a result of underdevelopment of the renal medullary pyramids with resultant enlargement of the calyces. It is more frequently seen in males.
The enlarged, floppy calyces predispose to stasis, infection and calcul...
A congenital (primary) megaureter encompasses causes of an enlarged ureter which are intrinsic to the ureter, rather than as a result of a more distal abnormality; e.g. bladder, urethra (see secondary megaureter). It includes:
obstructed primary megaureter
refluxing primary megaureter
Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy.
A congenital neuroblastoma is defined as neuroblastoma identified within a month of birth, and is divided into :
In most cases they present as stage 1, 2 or 4S (see neuroblastoma staging).
In 90% of cases fetal neuroblastomas ar...
Congenital portosystemic shunts are rare, extrahepatic or intrahepatic, anatomical abnormalities shunting blood from the portal venous system to the systemic venous system and, thus, avoiding passage through the hepatic acinus.
The term “portosystemic shunt” can be used to refer t...
Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.
Usually presents as a midclavicular swelling in the neonate or young child 1.
Congenital pseudoarthrosis of the clavicle is more commo...
Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two.
The etiology is unclear, however, ar...
Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. CPAMs are considered part of the spectrum of bronchopulmonary foregut malformations.
Until recently they were described as congenital cystic adeno...
Congenital pulmonary lymphangiectasia refers to congenital dilatation of the lymphatic system.
It typically presents in infancy. It may be isolated to lung or may be part of a generalised lymphangiectasia.
Congenital pulmonary stenosis (CPS) refers to congenital narrowing of the right ventricular outflow tract, pulmonary valve or pulmonary artery.
See pulmonary valve stenosis for a general discussion about this valvulopathy.
The estimated incidence is 1 in 2000 births.
Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes.
Overall, congenital radial head dislocation is rare 2.
Congenital radial he...
Congenital renal anomalies comprise of vast spectrum of pathologies and include:
congenital renal hypoplasia
congenital cystic renal disease
infantile polycystic renal disease: autosomal recessive polycystic kidney disease (ARPKD):...
Congenital spinal meningoceles are developmental anomalies of meningothelial elements displaced into the skin and subcutaneous tissues.
Please refer on menigocele article for a broad overview of all types of this condition.
It is defect of the neural tube, an embryonic structure th...
Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound.
While some use CTEV and clubfoot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes t...
Congenital tracheo-esophageal fistula is a congenital pathological communication between the trachea and esophagus.
Tracheo-esophageal fistula and esophageal atresia have a combined incidence of approximately 1 in 3500 live births 1-3,5. There is only a minimal hereditary/geneti...
Conjoined twin pregnancy is a rare occurrence resulting from the failure of a zygote to separate completely after 13 weeks. This results in the twins being physically joined.
The prevalence of conjoined twins ranges from 1:50,000 to 1:200,000. They are more common in parts of Sout...
Convolutional markings are normal impressions of the gyri on the inner table of the skull, seen predominantly posteriorly. If they are pronounced and over the more anterior parts of the skull, then this is referred to as a copper beaten skull and suggests the presence of raised intracranial pres...
Copper beaten skull, also known as beaten silver skull or beaten brass skull, refers to the prominence of convolutional markings (gyral impressions on the inner table of the skull) seen throughout the skull vault.
The appearance of a copper beaten skull is associated with...
The corkscrew sign describes the spiral appearance of the distal duodenum and proximal jejunum seen in midgut volvulus 1.
In patients with malrotation and volvulus, the distal duodenum and proximal jejunum do not cross the midline and instead pass in an inferior direction. These loops twist on ...
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogenous developmental disorder of unknown etiology.
The estimated incidence is at ~1:10,000-160,000 births ref. There is no recognised racial or gender predilection 8.
The syndrome carri...
Coronal vertebral clefts refer to the presence of radiolucent vertical defects on a lateral radiograph.
It is most often seen in premature male infants 1,3. As they can occur as part of normal variation (especially in the lower thoracic-upper lumbar spine of premature infants) t...
Cortical desmoids, also known as cortical avulsive injuries or the Bufkin lesion, are a benign self-limiting entity. This is a classic "do not touch" lesion, and should not be confused with an aggressive cortical/periosteal process (e.g. osteosarcoma).
Cortical desmoid is a misnom...
Costal cartilage fractures are fractures of the cartilage connecting the ribs anteriorly to the sternum.
There is little published data on costal cartilage fractures. Most reported cases are in males and resulted from blunt trauma or a fall 1,2.
In young ch...
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus, when it is considered a type o...
Coxa valga describes a deformity of the hip where there is an increased angle between the femoral neck and femoral shaft.
Coxa valga is often associated with shallow acetabular angles and femoral head subluxation.
neuromuscular disorders, e.g. cerebral palsy
Coxa vara describes a deformity of the hip where the angle formed between the head and neck of the femur and its shaft (Mikulicz angle) is decreased, usually defined as less than 120 degrees.
It can be congenital or acquired. The common mechanism in congenital cases is a failure of m...
Cozen fracture or phenomenon is the valgus angulation deformity of the tibia following a proximal tibial metaphyseal fracture in children.
This typically occurs as a late deformity in children aged 3-6 years.
Proposed causes include:
non-recognised or under ...
Craniopagus twins are conjoined twins that are fused at any part of the skull, except the face, foramen magnum, skull base and the vertebral column.
The fused structures are most often the cranium, meninges, and dural venous sinuses. Brains tend to be separate; however, may be connected by a br...
Craniorachischisis is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida.
In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in a Texas-Mexico border population 1.
Craniosynostosis refers to the premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early.
There is a 3:1 male predominance with an overall incidence of 1 in 2000-2500. 8% of cases are syndromic or famil...
The crescent in a doughnut sign refers to the transverse ultrasound appearance of intestinal intussusception, and is a variation of the target sign (which is also known as the doughnut sign)
The doughnut is formed by concentric alternating echogenic and hypoechogenic bands. The echogenic bands ...
Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common.
Croup, also called acute laryngotracheobronchitis is due to viral infection of the upper airway by parainfluenza virus or respiratory syncytial virus (RSV).
On imaging, although not required for the diagnosis, it classically presents with a narrowing of the subglottic airway and ballooning of t...
Crouzon syndrome is rare disorder characterized by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exopthalmos
mid facial hypoplasia
It carries an autosomal dominant ...
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 centers. Congenital heart diseases have been described in mor...
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...
A number of entities can present as cyanotic congenital heart disease. These can be divided into those with increased or decreased pulmonary vascularity (pulmonary plethora):
increased pulmonary vascularity
total anomalous pulmonary venous return (TAPVR) (types I and II)
transposition of the ...
Cyclopia refers to a rare fetal malformation characterized by a single palpebral fissure and a single midline orbit. This orbit may contain either a single globe or two separate globe.
The condition is thought to affect approximately 1 in 40,000 to 95,000 births (inclusive of stil...
Pulmonary manifestations of cystic fibrosis are some of the best known in cystic fibrosis (CF). This is partly because the lungs are often severely affected and the cause of significant morbidity and mortality.
For general discussion of cystic fibrosis, and a discussion of its other manifestat...
Cystic hygroma, also known as cystic or nuchal lymphangioma, refers to the cystic variety of congenital lymphangioma which, most commonly, occur in the cervicofacial regions, particularly at the posterior cervical triangle.
They usually occur in the fetal/infantile and pediatric...
Cystic leukoencephalopathy without megalencephaly, is an autosomal-recessive inherited condition that manifests in the early childhood with moderate to severe psychomotor retardation and spasticity.
On imaging, it is characterized by bilateral anterior subcortical temporal lobe cysts and extens...
Cystic lesions in pediatric patients are usually congenital lesions and, as such, can be seen antenatally and following delivery.
These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a ...
The differential diagnosis of a cystic mass adjacent to the angle of mandible includes:
2nd branchial cleft cyst
lymphatic malformation (lymphangioma)
from metastatic squamous cell carcinoma
from metastatic papillary thyroid cancer
Dandy-Walker continuum, also referred as Dandy-Walker spectrum or Dandy-Walker complex, corresponds to a group of disorders believed to represent a continuum spectrum of posterior fossa malformations, characterized by inferior vermian hypoplasia and incomplete formation of the fourth ventricle w...
A generalised retardation in skeletal maturation has different causative or aetiological factors, these can be classified as follows:
chronic ill health
congenital heart disease (especially cyanotic)
chronic renal disease
inflammatory bowel disease
malnutrition: failure to thrive (FTT)
The delta resistive index (delta RI or Δ RI) is a measurement that can be made when performing Doppler ultrasound.
In preterm babies who have hydrocephalus secondary to intraventricular hemorrhage, the delta RI can be used to determine whether decompression of the ventricular system with an...
The differential diagnosis of dense metaphyseal bands is wide.
chronic anemia, e.g. sickle cell disease, thalassemia
chemotherapy, e.g. methotrexate
growth acceleration lines following growth arrest due to systemic illness or stress in infancy or childhood, e.g...
Desmoplastic infantile astrocytoma and gangliogliomas are a rare intracranial tumor, which despite their aggressive appearances tend to have a good prognosis and are considered WHO grade I tumors.
Previously considered separate entities, desmoplastic infantile astrocytoma and desm...
Developmental dysplasia of the hip (DDH), or in older texts congenital dislocation of the hip (CDH), denotes aberrant development of the hip joint and results from an abnormal relationship of the femoral head to the acetabulum. There is a clear female predominance, and it usually occurs from lig...
Diabetic embryopathy refers to a spectrum of fetal anomalies that precipitate when the mother has background type I diabetes. The fetus may develop many of the fetal conditions associated with maternal diabetes although strictly speaking the the anomalies should only include those that start in ...
Diastasis recti (rectus diastasis) is a stretching of the linea alba with abnormal widening of the gap between the two sides of the rectus abdominus muscle (inter-recti distance).
The degree of widening needed for the diagnosis is controversial, with the degree of abdominal protrusion (rather t...
Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) when there is a longitudinal split in the spinal cord.
Although traditionally it has been distinguished from diplomyelia (in which the cord is duplicated rather ...
Diffuse brainstem gliomas, also known as diffuse intrinsic brainstem glioma (DIBG), is a term used to describe infiltrating astrocytomas, no longer recognised as a distinct entity in the 2016 update to the WHO classification of CNS tumors. It encompassed a variety of tumors, ranging from WHO gra...
Disorder of gender development refers to the spectrum of rare congenital conditions in where there is an atypical development of chromosomal, gonadal, or anatomic sex.
They can be classified broadly into four categories on the basis of gonadal histologic features which include:
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.
Injuries involving the tegm...
The double bubble sign is seen in infants and represents dilatation of the proximal duodenum and stomach. It is seen in both radiographs and ultrasound, and can be identified antenatally 2.
Causes include 1,2:
The double density sign, also sometimes clumsily referred to as the hotter spot within hot area sign, is a bone scan sign of an osteoid osteoma.
It refers to a central focus of intense uptake (the nidus) within a surrounding lower, but nonetheless increased uptake, rim.
The double lung point sign refers to a sharp boundary found between relatively aerated superior lung fields and coalescent "B‐lines" (representing interstitial edema) in the basal lung fields, with a reported sensitivity of 45.6%-76.7% and a specificity of 94.8%-100% 1,3 in diagnosing transient ...
Double outlet left ventricle (DOLV) is an extremely rare congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the anatomical left ventricle. It is usually classified as a conotruncal anomaly and is often associated with a ventricular septal defect with normal continuity...
Double outlet right ventricle (DORV) is a congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the morphologically right ventricle. It is reported to account for ~2% of congenital cardiac defects 1. It is usually classed as a conotruncal anomaly. There is almost always ...
The double track sign is a radiological sign described in pyloric stenosis on various imaging modalities.
Double streaks of barium passing through the narrow pylorus 1.
On fluid aided real-time examination, the pyloric fluid is compressed into smaller tracks as it is...
Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of:
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.
The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures in a fe...
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).
Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterized by non-progressive strabismus. It is caused by a variable degree of abnormal development of one or both 6th cranial nerves (CN VI).
It presents during childhood and it accounts for ...
Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes:
intrauterine growth restriction (IUGR)
postnatal growth retardation
moderate mental retardation
characteristic facial anomalies
Duchenne muscular dystrophy (DMD) is a dystrophinopathy and the most common muscular dystrophy.
DMD has an incidence of 1 in 3500 to 5000 males 1,2. The condition is extremely rare in females due to its inheritance pattern, as discussed below 1.
The ductus arteriosum (or arteriosus) is the thick short conduit for blood to bypass the non-ventilated lungs in the fetus. It is located between and connects the proximal left pulmonary artery and the undersurface of the aortic arch distal to the origin of the last branch of the arch, at the ao...
Ductus venosus (DV) is a narrow, trumpet-shaped vessel which is seen in the fetal liver connecting the umbilical vein directly to the caudal inferior vena cava. The vessel plays a critical role in the fetal circulation by shunting oxygenated and nutrient-rich umbilical venous blood from the plac...
Duodenal atresia results from a congenital malformation of the duodenum and requires prompt correction in the neonatal period. It is considered to be one of the commonest causes of a fetal bowel obstruction.
The prevalence of duodenal atresia is ~1 in 5,000-10,000 newborns, and th...
A duodenal web, diaphragm or intraluminal diverticulum refers to a complete or incomplete obstruction at the duodenum due to a membranous web or intraluminal diverticulum. There is usually a small aperture at the center differentiating this from a duodenal atresia.
Although they are frequently...
Dysgenesis of the corpus callosum may be complete (agenesis) or partial and represents an in utero developmental anomaly. It can be divided into:
primary agenesis: the corpus callosum never forms
secondary dysgenesis: the corpus callosum forms normally and is subsequently destroyed
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.
The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
Ebstein anomaly is an uncommon congenital cardiac anomaly, characterized by a variable developmental anomaly of the tricuspid valve.
The anomaly accounts for only ~0.5% of congenital cardiac defects 6-7, although it is the most common cause of congenital tricuspid regurgitation. T...
Echogenic fetal bowel is an observation in antenatal ultrasound imaging, in which fetal bowel appears to be brighter than it is supposed to be. It is a soft marker for trisomy 21 and has several other associations. When observed, it needs to be interpreted in the context of other associated abno...
Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic disorders that cause abnormal ectoderm development. The effect is a non-progressive defect in the development of two or more tissues derived from embryonic ectoderm.
ED is rare with an estimated prevalence of 1:...
Ectopia cordis is an extremely rare congenital malformation where the heart is located partially or totally outside the thoracic cavity. The four main ectopic positions are:
adjacent to the thorax: ~60%
The incidence is ...
An ectopic ureter is a congenital renal anomaly that occurs as a result of abnormal caudal migration of the ureteral bud during its insertion to the urinary bladder. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder.
In females, the most common ...
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
facial clefts: cleft lip and/or palate
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.
Egg-on-a-string sign, also referred to as egg on its side, refers to the cardiomediastinal silhouette seen in transposition of the great arteries (TGA).
The heart appears globular due to an abnormal convexity of the right atrial border and left atrial enlargement and therefore appears like an ...
Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal.
In general, the shunts that lead to Eisenmenger syndrome share are high pressure and high flow 3. As su...
Elbow ossification occurs at the six elbow ossification centers in a reproducible order. Being familiar with the order of ossification of the elbow is important in not mistaking an epicodylar fracture for a normal ossification center.
The order of appearances of the elbow os...
Mnemonics for elbow ossification include CRITOE and CRITOL. These are essentially the same, apart from the terminal letter which represents the External or Lateral epicondyle.
C - capitellum
R - radial head
I - internal epicondyle
T - trochlea
O - olecranon
E - external ...
The embryonal subtype of rhabdomyosarcoma is the most common variety of rhabdomyosarcoma, accounting for 50-70% of cases 1-2. It is typically seen in children below the age of 15.
Embryonal rhabdomyosarcomas are further divided into three sub types 1:
spindle cell rhabdomyosarcoma
Embryonal tumors with multilayered rosettes (ETMR) are rare small round blue cell tumor of the central nervous system and are one of the most aggressive brain tumors usually encountered in children.
Previously embryonal tumors with multilayered rosettes (ETMR) were known as embryo...
Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.
It should be distinguished from cranial meningocele in which the lesion contains onl...