Items tagged “congenital”

24 results found
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Intestinal malrotation

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Although some individuals live their entire life with a malrotated bowel without associated symptoms, the abnormality does pred...
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Atrial septal defect

Atrial septal defect (ASD) is the second most common congenital heart defect after ventricular septal defects (VSDs) and the most common to become symptomatic in adulthood. They are characterized by an abnormal opening in the atrial septum allowing communication between the right and left atria...
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Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a type of cardiomyopathy defined by left ventricular hypertrophy which cannot otherwise be explained by another cardiac or systemic disease. It the leading cause of sudden cardiac death in infants, teenagers, and young adults. Terminology Although hypertrop...
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Transposition of the great arteries

Transposition of the great arteries (TGA) (also known as transposition of the great vessels (TGV)) is the most common cyanotic congenital cardiac anomaly presenting during the newborn period, with cyanosis in the first 24 hours of life. It accounts for up to 7% of all congenital cardiac anomalie...
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Cardiac rhabdomyoma

Cardiac rhabdomyomas are a type of benign myocardial tumor and are considered the most common fetal cardiac tumor. They have a strong association with tuberous sclerosis. Epidemiology Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumors in the pediatric populat...
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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 dist...
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Aberrant left pulmonary artery

Aberrant left pulmonary artery, also known as pulmonary sling, represents an anatomical variant characterized by the left pulmonary artery arising from the right pulmonary artery and passing above the right main bronchus and in between the trachea and esophagus to reach the left lung. It may lea...
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Bladder exstrophy

Bladder exstrophy (also known as ectopia vesicae) refers to a herniation of the urinary bladder through an anterior abdominal wall defect. The severity of these defects is widely variable. Epidemiology The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 3,5. There is a ...
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Sprengel deformity

Sprengel deformity, or congenital elevation of the scapula, is a complex deformity of the shoulder and is the most common congenital shoulder abnormality. An initial diagnosis can often be made on radiographs, but CT or MRI is often necessary to evaluate the details of the abnormality. Epidemio...
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Ectopic ureter

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 ...
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Foregut duplication cyst

Foregut duplication cysts are a type of congenital duplication cyst. They are sometimes classified under bronchopulmonary foregut malformations. Entities classified as foregut duplication cysts include: bronchogenic cysts neurenteric cysts other enteric cysts esophageal duplication...
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Polyorchidism

Polyorchidism, also known as supernumerary testes, refers to the presence of more than two testes and is a very rare congenital anomaly. The supernumerary testis can be usually located inside the scrotum (75% of the patients) or less commonly in the inguinal canal, the retroperitoneum, or the ab...
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Congenital radial head dislocation

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. Epidemiology Overall, congenital radial head dislocation is rare 2. Clinical presentation Congenital radial he...
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Sphenoid wing dysplasia

Sphenoid wing dysplasia is a characteristic but not pathognomonic feature of neurofibromatosis type 1 (NF1), it can also occur in isolated cases. Epidemiology Sphenoid wing dysplasia is seen in 5-10% of cases of NF1 and is one of the diagnostic criteria of NF1 5,6. Clinical presentation Puls...
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Pulmonary atresia with intact interventricular septum

Pulmonary atresia with intact interventricular septum (PA-IVS) is a subtype of pulmonary atresia that presents as cyanotic congenital heart disease.  Pathology PA-IVS is the combination of obstruction of the pulmonary outflow tract from pulmonary valve atresia without a ventricular septal defe...
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Mullerianosis

Mullerianosis is a rare type of choristoma, in which normal Mullerian-derived structures (endometrium, endosalpinx, and endocervix) are ectopically located in another organ (e.g. the bladder) through a developmental anomaly. Mullerianosis differs from endometriosis in that at least two types of ...
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Congenital cataract

Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.  Epidemiology Incidence is ~3 per 100,000 in the United Kingdom 1. Although the incidence tends to be higher in areas with increased rates of congenital infec...
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Congenital pseudoarthrosis of the clavicle

Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.  Clinical presentation Usually presents as a midclavicular swelling in the neonate or young child 1.  Pathology Congenital pseudoarthrosis of the clavicle is more commo...
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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 ...
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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.