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Progeria is one of the rare genetic diseases of the children. The disease is characterized by premature aging. The most severe form of Progeria is Hutchinson-Gilford progeria syndrome. The babies with Progeria appear normal after birth but gradually, within a year, the growth rate slows down. This result in shorter body structure and low body weight as compared to other children of the same age possess.
The Progeria babies possess normal intelligence; however, develop distinctive features like baldness, a pinched nose, aged-looking skin, and a small face and jaw compared to head size. Some of the common symptoms of Progeria are (which are common among the old people) stiffness of joints, cardiovascular disease, and hip dislocations. These signs can also be noticed among children suffering with Progeria.
The other problems like cataracts and osteoarthritis, which are common among older people, are not seen among the children with progeria. The typical signs and symptoms of Progeria are:
- Growth failure during the first year of life
- Baldness
- Loss of eyebrows and eyelashes
- Narrow and shrunken or wrinkled face
- Short stature
- Large head as compared to the size of face
- Limited ability to move
- Dry and scaly, thin skin
- Delayed formation or total absence of teeth.
The cardiovascular complications among children with Progeria make them undergo angioplasty and/or coronary artery bypass surgery. Currently there is no treatment for Progeria and the death of a child occurs at the age of 13 on an average. The reason of death is mostly heart attack or stroke.
| The cause of Hutchinson-Gilford progeria is a small, point mutation in a single gene, known as lamin A. Due to mutation LMNA gene produces an abnormal form of the lamin A protein, which destabilizes the nuclear membrane of the cell.
With advancement of medical science, the genetic test for Hutchinson-Gilford progeria syndrome has become possible. The genetic test enables the doctors to diagnose a child with Progeria at a younger age so that treatment can be initiated early. This facility was not available in the past when the doctors had to depend on certain physical symptoms like skin changes, failure to gain weight, etc., which were not fully evident until a child reached the first or second years of age.
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The genetic test for Hutchinson-Gilford progeria syndrome is also required to ensure the parents that the reason behind the disease is certain sporadic genetic mutation and, therefore, there is no risk of getting the disease in any future offspring.
To know more on Congenital Diseases in Babies browse through the pages of Pregnancyxl.com
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