Diseases

Congenital megalo-ureter

A birth defect where the ureter is abnormally dilated due to a structural obstruction of the end portion of the ureter.

Congenital microvillous atrophy

Microvillous inclusion disease, also known as Davidson's disease, congenital microvillous atrophy and, less specifically, microvillous atrophy, is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.

Congenital mitral malformation

Malformations of the mitral valve that are present at birth. The mitral valve allows blood to flow between the two chambers on the left side of the heart. Types of mitral malformation are atresia (absent mitral valve), stenosis (narrowed mitral valve) and parachute mitral valve

Congenital mitral stenosis

A heart malformation that is present at birth. The mitral valve is narrower than normal which affects blood flow between the upper and lower chambers on the left side of the heart. It usually occurs in conjunction with other malformations

Congenital mumps

Fetal exposure to the mumps virus during pregnancy. From existing evidence, fetal exposure to mumps rarely proves to be a problem although there have been cases of spontaneous abortion and a heart condition called endocardial fibroelastosis. Infection late in the pregnancy can result in the infant contracting mumps

Congenital Muscular dystrophy

Congenital muscular dystrophies (CMD) are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.

Congenital Myasthenic Syndromes

Congenital myasthenic syndromes are a group of rare hereditary conditions caused by a gene change that results in muscle weakness, which worsens with physical activity. Any muscles used for movement can be affected, including muscles that control speaking, chewing and swallowing, seeing and blinking, breathing, and walking.

There are many types of congenital myasthenic syndromes, depending on which gene is affected. The changed gene also determines many of the signs and symptoms and severity of the condition.

Congenital myasthenic syndromes are usually identified at birth or early childhood and are lifelong conditions.

There is no cure for congenital myasthenic syndromes. Medications are generally an effective treatment for muscle weakness symptoms. Which medication works depends on which gene is identified as the cause of the congenital myasthenic syndrome. Rarely, some children may have a mild form that doesn’t need treatment.

Congenital myotonic dystrophy

Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease).Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form.Congenital means 'from birth' because the condition is usually identified at birth or soon after;myotonic means 'involving muscle stiffness'; and dystrophy is 'muscle wasting and weakness'. (Congenital myotonic dystrophy is not the same as congenital myopathy or congenital muscular dystrophy. For more information about these or other conditions please contact the Muscular Dystrophy Association).

Congenital nephrotic syndrome

Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.

Congenital nonhemolytic jaundice

A rare disorder where the liver is unable to remove bilirubin from the body which results in jaundice. Chronically high bilirubin levels can lead to neurological toxicity which manifests as progressive neurological symptoms.

Congenital Plasminogen Deficiency

Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.

Congenital Pseudarthrosis of the Tibia

Congenital Pseudarthrosis of the Tibia (CPT) is a rare condition characterized by a non-union of the tibia bone, often developing in the first two years of life, sometimes even at birth. It’s a type of fracture that doesn’t heal properly, leading to instability and potential deformity of the lower leg. This condition is frequently associated with Neurofibromatosis Type 1 and can significantly impact a child’s mobility and development.

CPT is thought to result from abnormal bone formation, specifically involving the periosteum (the membrane surrounding the bone), which prevents proper healing. This leads to a “false joint” (pseudarthrosis) at the site of the non-union, causing instability and susceptibility to further fractures. 

Congenital pseudoarthrosis

A very rare birth defect where the middle portion of a bone fails to develop normally so that the two ends of the bone shaft are not joined. This gives the bone the appearance of having a joint. Bones commonly affected include the shin bone, collar bone, forearm bone and upper leg bone - one or more bones may be involved.

Congenital spherocytic anemia

A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells die prematurely which results in anemia. The condition may range from mild to severe.

Congenital spherocytic hemolytic anemia

A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells are broken down prematurely by the body which results in anemia. The condition may range from mild to severe.

Congenital stenosis of cervical medullary canal

A rare birth anomaly where the spinal canal in the upper part of the back is narrower than normal. The narrowing may be inherited or acquired (e.g. trauma). The narrowing of the canal can result in spinal cord compression and associated symptoms.

Congenital Sucrase-Isomaltase Deficiency

Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.

Congenital thrombotic disease- due to Protein C deficiency

A rare blood disorder where deficiency of protein C (anticoagulation agent) results in a predisposition for the formation of blood clots. The severity of the condition is variable. Homozygotes tend to have more severe symptoms while most heterozygotes are asymptomatic. Deficiency of protein C can be an inherited trait or may be acquired through liver disease and after surgery

Congenitally corrected transposition of the great arteries

A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case.