Items tagged “congenital”

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...

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...

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...

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...

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 ...

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...

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...

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 ...

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. 

​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. Terminology The term “portosystemic shunt” can be used to refer t...