What causes neonatal progeroid syndrome?

In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner.

What is Progeroid syndrome?

Listen. Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia , developmental delay and mild to severe intellectual disability .

Can progeria be detected prenatally?

This is due to a condition called “mosaicism,” where a parent has the genetic mutation for Progeria in a small proportion of their cells, but does not have Progeria. Prenatal testing during pregnancy is available to look for the LMNA genetic change that causes HGPS in the fetus.

Who is Abby Solomon?

Abby Solomon, MSW, HCA – Chief Executive Officer – SEIU 775 Benefits Group | LinkedIn.

What is Wiedemann Steiner syndrome?

Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings.

What is neonatal sepsis?

Sepsis is a serious medical condition caused by the body’s response to an infection. In newborns, sepsis can cause swelling throughout the body and possible organ failure.

What is the meaning of progeria?

Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear normal at birth.

How does progeria happen?

Progeria is caused by a mutation (change) in the lamin A (LMNA) gene. This gene makes a protein that holds the nucleus of a cell together. Because of the change in the gene, the protein becomes defective. This makes the nucleus unstable, which is believed to cause the premature aging process.

Why is progeria cured?

There’s no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child’s condition. During medical visits, your child’s weight and height is measured and plotted on a chart of normal growth values.

What is neonatal Progeroid syndrome?

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin ( …

Who has Marfanoid Progeroid lipodystrophy syndrome?

As of 2016, fewer than 10 cases of the condition have been reported. Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition.

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