Congenital disorders Congenital disorders A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts1. ...more on Wikipedia about "Aagenaes syndrome"
Acephaly is a type of Cephalic disorder. This literally means absence of the head. It is a much rarer condition than anencephaly. The acephalic fetus is a parasitic twin attached to an otherwise intact fetus. The acephalic fetus has a body but lacks a head and heart; the fetus's neck is attached to the normal twin. The blood circulation of the acephalic fetus is provided by the heart of the twin. The acephalic fetus can not exist independently of the fetus to which it is attached. Similarly, acardiac fetuses lack everything from the heart upwards, including head and arms, and behave similarly to acephalic fetuses. ...more on Wikipedia about "Acephaly (medicine)"
Acheiropodia is a congenital defect which consists of bilateral congenital amputations of the upper and lower extremities, as well as aplasia of the hands and feet. ...more on Wikipedia about "Acheiropodia"
Achondrogenesis is the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). It is lethal, resulting in stillbirth or death a few days after the birth. ...more on Wikipedia about "Achondrogenesis"
Agenesis of the Corpus Callosum (ACC) is a rare birth defect ( Congenital disorder) in humans in which there is a complete or partial absence of the Corpus callosum. It can appear in both males and females, though in females agenesis may be caused by Aicardi syndrome, a condition identified by the French neurologist Dr Jean Aicardi in 1965. Agenesis of the Corpus Callosum is not progressive and could cause death in only the most serious of cases. ** ...more on Wikipedia about "Agenesis of the corpus callosum"
Alopecia universalis is a medical disorder in which the afflicted are unable to grow hair on the entire body. It is the most severe form of alopecia areata. Alopecia universalis can occur at any age, and is currently believed to be an autoimmune disorder. ...more on Wikipedia about "Alopecia universalis"
Amelia is the birth defect of lacking one or more limbs. ...more on Wikipedia about "Amelia"
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Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero. ...more on Wikipedia about "Amniotic band syndrome"
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain - the largest part of the brain consisting mainly of the cerebrum - which is responsible for thinking and coordination. The remaining brain tissue is often exposed - not covered by bone or skin. ...more on Wikipedia about "Anencephaly"
' Aneurysm of the aortic sinus', also known as the sinus of Valsalva, is comparatively rare, occurring in about one person in every thousand. When present, it is usually in either the right (65-85%) or in the noncoronary (10-30%) sinus, rarely in the left (< 5%) sinus. This type of aneurysm is typically congenital and may be associated with heart defects. It is sometimes associated with Marfan syndrome, but may also result from Ehlers-Danlos syndrome, atherosclerosis, syphilis, cystic medial necrosis, chest injury, or infective endocarditis. ...more on Wikipedia about "Aneurysm of sinus of Valsalva"
Anotia ( "no ear") describes a rare, congenital deformity, a missing auricle, the external, visible part of the ear. ...more on Wikipedia about "Anotia"
Arteriovenous malformation or AVM is a congenital disorder of the veins and arteries that make up the vascular system . The cause of this disorder is unknown, but is not generally thought to be hereditary. ...more on Wikipedia about "Arteriovenous malformation"
Arthrogryposis (Arthrogryposis Multiplex Congenita) is a muscle disorder that causes multiple joint contractures at birth. A contracture is a limitation in the range of motion of a joint. It is non-progressive. ...more on Wikipedia about "Arthrogryposis"
A normal aortic valve has three cusps. A bicuspid aortic valve has only two cusps, and this is mostly due to congenital malformation. About 1-2% of the population have bicuspid aortic valves, and the majority will cause no problems. However, especially in later life, a bicuspid aortic valve may become calcified, which may lead to varying degrees of severity of aortic stenosis and aortic regurgitation, which will manifest as murmurs. If these become severe enough, they may require surgery. ...more on Wikipedia about "Bicuspid aortic valve"
Biliary atresia is a rare condition in newborn children in which the biliary tract between the liver and the intestine is blocked or absent. If unrecognised, the condition leads to liver failure but not (as one might think) to kernicterus. It has no known cause, and the only effective treatment is by surgery. ...more on Wikipedia about "Biliary atresia"
Brachycephaly is a type of Cephalic disorder. This occurs when the coronal suture fuses prematurely, causing a shortened front-to-back diameter of the skull. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull. ...more on Wikipedia about "Brachycephaly"
Cenani Lenz syndactylism (also known as Cenani's syndactyly) is a congenital malformation syndrome involving both, upper and lower extremity. It is thought to be inhereted autosomal recessive. The syndrome is named after Turkish ( Asim Cenani) and German ( Widukind Lenz) medical geneticists. ...more on Wikipedia about "Cenani Lenz syndactylism"
Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means " head" or "head end of the body." ...more on Wikipedia about "Cephalic disorder"
A cerebral arteriovenous malformation (AVM) is a congenital disorder of blood vessels within the brain, characterized by tangle(s) of veins and arteries. While an arteriovenous malformation can occur elsewhere in the body, this article discusses malformations found in the brain. ...more on Wikipedia about "Cerebral arteriovenous malformation (AVM)"
Choanal atresia is a congenital disorder where the back of the nasal passage is blocked, usually by abnormal bony or soft tissue. It can be unilateral or bilateral. ...more on Wikipedia about "Choanal atresia"
Chordee is a condition in which the penis curves downward (that is, in a ventral direction). The curvature is usually most obvious during erection, but resistance to straightening is often apparent in the flaccid state as well. In many cases but not all, chordee is associated with hypospadias. It is usually considered a congenital malformation of unknown cause. Since at an early stage of fetal development the penis is curved downward, it has been proposed that chordee results from an arrest of penile development at that stage. ...more on Wikipedia about "Chordee"
Cleft is a congenital deformity caused by a failure in facial development during pregnancy. It can be treated with surgery shortly after birth with highly successful results. Cleft occurs in somewhere between one in 600 and one in 800 births. Cleft occurs in several severities and is divided in two major categories: cleft lip (or hare lip/hair lip) and cleft palate. ...more on Wikipedia about "Cleft"
Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of both male and female genitalia (specifically, the penis and clitoris respectively), and the anus is occasionally sealed. ...more on Wikipedia about "Cloacal exstrophy"
A club foot, or talipes equinovarus (TEV), is a birth defect. The foot is twisted in and down. Without treatment, persons afflicted often appear to walk on their ankles, or on the sides of their feet. It is the most common birth defect, occurring in approximately one to two per 1000 live births. Approximately 50% of cases of clubfeet are bilateral. In most cases it is an isolated abnormality. ...more on Wikipedia about "Club foot"
Colpocephaly is a type of Cephalic disorder. This is a disorder in which there is an abnormal enlargement of the occipital horns - the posterior or rear portion of the lateral ventricles (cavities or chambers) of the brain. This enlargement occurs when there is an underdevelopment or lack of thickening of the white matter in the posterior cerebrum. Colpocephaly is characterized by microcephaly (abnormally small head) and mental retardation. Other features may include motor abnormalities, muscle spasms, and seizures. ...more on Wikipedia about "Colpocephaly"
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