Diseases

Congenital heart block

A rare congenital heart disease where a slowed heart rate is caused by defects in the heart conduction system. The condition is usually asymptomatic and harmless but in severe cases (complete AV block) various symptoms and sudden death may occur.

Congenital heart septum defect

A heart defect involving the septum which is present at birth. The defect is a hole in the wall of the heart that separates the right and left chambers and allows blood to flow through the hole. An atrial septal defect is a hole between the two upper heart chambers and a ventricular septal defect is a hole between the two lower heart chambers. Symptoms are determined by the size and exact location of the defect.

Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.

Congenital hemolytic anemia

An inherited blood disorder where a metabolic defect causes defects in the red blood cells membranes which leads to their characteristic spherical shape (normal cells are doughnut shaped) and premature destruction.

Congenital hepatic fibrosis

A rare inherited birth disorder characterized by fibrosis (scarring) of the liver which affects its ability to function. The severity of the condition is variable with some patients being symptomatic during infancy while others may be asymptomatic for most of their life.

Congenital herpes simplex

An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.

Congenital High Airway Obstruction (CHAOS)

Congenital High Airway Obstruction (CHAOS) is a syndrome in which there is a blockage of the upper airway of the fetus during pregnancy. During development, portions of the amniotic fluid are produced and exhaled by the lungs. If there is a blockage of the airway at any level, fluid from the lungs can back up. Longstanding and severe cases of CHAOS can cause heart failure and can lead to fetal demise. Although most infants will make it to birth without problems, there is great concern that the infant will not be able to breathe at time of delivery. This will require special considerations and treatments, such as an EXIT (Ex Utero Intrapartum Treatment) procedure at birth.

http://childrens.memorialhermann.org

Congenital Hydronephrosis

A rare kidney disorder that is present at birth and involves enlargement of the part of the ureter closest to the kidney due to obstruction of the flow of urine out of the kidney. The severity of the condition is determined by the degree of obstruction.

Congenital hypomyelination neuropathy

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.

Congenital hypothyroidism

A congenital deficiency of thyroid hormone due to complete or partial failure of the thyroid gland

Congenital hypotrichosis milia

A rare inherited disorder characterized by reduced hair from birth and the development of numerous milia which tend to disappear by adolescence. The milia occur on the face, chest, armpits and genital area.

Congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA, hereditary sensory and autonomic neuropathy type IV), is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, cold, or any real nerve-related sensations (including feeling the need to urinate); however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), known as HSAN IV. (It is also referred to as HSAN Type IV). A person with CIPA cannot feel pain or differentiate even extreme temperatures. "Anhidrosis" means the body does not sweat, and "congenital" indicates that the condition is present from birth.

Congenital megacolon

Hirschsprung's disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition, which means it is present from birth.

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 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).