Congenital Malformations, Deformations, Chromosonal Abnormalities...

A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause. Congenital disorders can be a result of genetic abnormalities, the intrauterine environment, a mixture of both, errors of morphogenesis, or unknown factors.

Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences or uncomfortable. The usage overlaps, but also involves a value judgement as to the harmfulness of the condition. In particular, people may disagree as to whether a specific physical anomaly should be considered a birth defect or a normal variation. See human variability and disease for more on the occasional difficulties of drawing these distinctions.

A congenital disorder can have trivial or grave consequences. The most severe, such as anencephaly, are incompatible with life. Others, such as congenital tumors, vary from causing stillbirth to requiring fetal intervention or special delivery procedures such as the EXIT procedure, to needing surgery in the neonatal period. The most common congenital tumor is teratoma. Congenital physical anomalies (birth defects) are a leading cause of death in early infancy, accounting for the deaths of nearly 2 out every 1000 infants in the United States.

A deformity, dysmorphism, or dysmorphic feature is a major difference in the shape of the body a body part, or a body organ (internal or external) compared to the average shape for the part in question.

Deformity may arise from numerous causes:

• A genetic mutation
• Damage to the fetus or uterus
• Complications at birth
• A growth or hormone disorder
• Reconstructive surgery following a severe injury e.g. burn injury.
• Arthritis and other Rheumatoid disorders

It is important to note that in many cases, deformed individuals do not survive. For example, in many cases in which a major deformity is present at birth, it is the result of an underlying condition severe enough that the baby does not survive very long. Or, in cases in which an individual becomes deformed due to an event, the event may kill the individual. In some societies, defective babies are abandoned at birth: some are saved by the "kindness of strangers”.

Following is a list of gongenital malformations and chromosonal abnormalities:

• Congenital malformations of the nervous system;
• Congenital malformations of eye, ear, face and neck;
• Congenital malformations of the circulatory system;
• Congenital malformations of the respiratory system;
• Cleft lip and cleft palate;
• Other congenital malformations of the digestive system;
• Congenital malformations of genital organs;
• Congenital malformations of the urinary system;
• Congenital malformations and deformations of the musculoskeletal system;
• Other congenital malformations Chromosomal abnormalities, not elsewhere classified, etc.

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Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

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ARTICLES:  Congenital Abnormalities: Heart, Larynx, Nose, Cleft Palate, etc