Progeria: Wiedemann-Rautenstrauch Syndrome
Progeria is a type of genetic disorder where aging is rapid and premature. There are different genetic disorders with this condition. All of them reflect rapid premature aging in victims. Collectively, they are called progeroid syndromes. But they are treated and considered as clinically unique from one another.
Not much is written about this condition. But Hutchinson-Gilford progeria syndrome (HGPS) is often misdiagnosed as Wiedemann-Rautenstrauch Syndrome (WRS). So, many symptoms of HGPS are also symptoms displayed from children and infants with this condition.
Clinical diagnosis of these infants shows that they appear old. There is no known treatment or prevention for this condition. However, for treatment of their other diseases like respiratory infection, they are treated the same way people with these problems are treated.
Wiedemann-Rautenstrauch syndrome is very similar with Hutchinson-Gilford progeria syndrome (HGPS). However, children and infants with this condition have varying degrees of mental retardation. It is known as neonatal progeroid syndrome. Individuals with this syndrome live only up to 6 years of age. Like many other progeroid syndromes but unlike HGPS, this condition is hereditary.
WRS was first described by Thomas Rautenstrauch in 1977 as progeria. In 1979, Hans-Rudolf Wiedemann had differentiated it from the other types of progeroid syndromes.
- Aged appearance at birth
- Growth delays in height and in weight
- Absence of subcutaneous fats (fats under the skin)
- Abnormal deposit of fats around the buttocks, hips, and belly
- Abnormally thin arms and legs
- Abnormally large hands and feet for their size
- Progressive and/or varying degrees of mental retardation
- Severe delays in psychomotor development
- Limitations in range of motion
- Large head, small face, chin, and jaw
- Small body and short in stature
- High pitched voice
Usual cause of death is repeated respiratory infection. Even before birth, doctors can already diagnose the fetus’ growth delays.
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