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  2. Oct 8, 2024 · Down syndrome, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21. The physical features of Down syndrome were first described in 1866 by British physician John Langdon Down. Learn more about the types, symptoms, and diagnosis of Down syndrome.

  3. Oct 9, 2024 · Definition. Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result from an action or exposure occurring during pregnancy or at birth, or they may be due to a combination of these factors.

  4. 6 days ago · A birth defect (also called a congenital defect) is a physical or physiological abnormality present in a baby at birth. Birth defects can be caused by genetic factors, prenatal events during pregnancy or a combination of both.

  5. Sep 18, 2024 · The congenital muscular dystrophies (CMD) are a group of conditions normally present from birth, or in the first few months of life. Symptoms of congenital muscular dystrophy. The symptoms of CMD are: low muscle tone or floppiness (hypotonia) at birth. tightness (contractures) of the ankles, hips, knees and elbows.

  6. 4 days ago · CNS congenital anomalies are birth defects of the physical structure of the brain or spinal cord that develop in utero, or when a fetus is developing during pregnancy. This blanket term encompasses a broad range of disorders and medical conditions, from minor abnormalities to severe ones.

  7. Oct 8, 2024 · What is congenital glaucoma? Congenital glaucoma is a genetic form of glaucoma that’s either present at birth or develops during very early childhood. Glaucoma is any eye disease that damages the optic nerve in your eye, causing vision loss. Children with congenital glaucoma have ocular hypertension (high pressure inside

  8. Oct 9, 2024 · Congenital heart disease, any abnormality of the heart that is present at birth. Cardiac abnormalities are generally caused by abnormal development of the heart and circulatory system before birth. Abnormal development can be caused by a variety of factors, including infection and use of certain.

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