Neonatal Progeroid Syndrome
Biology Research Paper
What is it?
Neonatal Progeroid Syndrome (NPS) or Wiedemann-Rautenstrauch (WRS) is a form of progeria, which is a premature aging syndrome which causes accelerated aging appearance starting at birth and almost total absence of body fat.
What are the Symptoms?
- Includes larger than normal sized head
- Prominent scalp veins
- Triangular, aged face
- Wrinkled skin
- Decreased fat underneath the skin
What causes this syndrome?
It is inherited as an autosomal recessive trait, as several pairs of siblings have been reported in families with unaffected parents. There is a deletion- duplication in chromosome 17. The karyotype is: 46, XX.
How can it be treated?
Treatment depends on the individual's specific symptoms. There is no cure for it, but doctors will monitor their heart and blood vessels. Some therapies may help with the symptoms. They include:
- low-dose aspirin
- Other medications
- Physical and occupational therapy
What they can do at home:
- Stay hydrated- People who have NPS tend to get dehydrated easily
- Small frequent meals- they get hungry easily as well
- Regular physical activity
- Cushioned shoes or inserts- The loss of body fat causes pain and discomfort in the feet
To diagnose Neonatal Progeroid syndrome, a series of anthropometric measurement is taken as well as, imaging, x-rays. Inborn errors, karyotyping, chromosomal breakage rate and DNA mutational studies are performed.
Neonatal Progeroid Syndrome is very rare. It only effects a few people on the Earth. Less than 30 cases have been reported.
What I discovered....
I learned of a rare genetic disorder I have never heard of.
People With Neonatal Progeroid Syndrome
Meet Lizzie Velasquez Medical Course