Neonatal progeroid syndrome

What causes neonatal progeroid syndrome?

The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.

Last updated on 05-01-20

How is neonatal progeroid syndrome diagnosed?

A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth.

Last updated on 05-01-20

Is neonatal progeroid syndrome inherited?

Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

Who is affected by neonatal progeroid syndrome?

Neonatal progeroid syndrome is a very rare genetic disorder that appears to affect males and females in relatively equal numbers. It has been observed in various ethnic and racial groups. The disorder was originally described as a condition in 1979 (Wiedemann) based upon the observation of two unrelated individuals as well as previous reports of two affected sisters in 1977 (Rautenstrauch et al.).

Last updated on 05-01-20

What is neonatal progeroid syndrome?

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. 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. Treatment is symptomatic and supportive.

Last updated on 05-01-20

How many people have had neonatal progeroid syndrome?

More than 30 cases have been reported in the medical literature.

Last updated on 05-01-20

How might neonatal progeroid syndrome be treated?

Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight.

Last updated on 05-01-20

Name: Progeria Research Foundation, Inc. P.O. Box 3453
Peabody, MA, 01961-3453 , United States
Phone: 978-535-2594 Fax : 978-535-5849 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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