What are the other Names for this Condition? (Also known as/Synonyms)

• Wiedemann-Rautenstrauch Syndrome

What is Neonatal Progeroid Syndrome? (Definition/Background Information)

• 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

(Source: Neonatal Progeroid Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Neonatal Progeroid Syndrome? (Age and Sex Distribution)

• Neonatal Progeroid Syndrome is a rare congenital disorder and about 30 cases have been described so far
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Neonatal Progeroid Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Neonatal Progeroid Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for this syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Neonatal Progeroid Syndrome? (Etiology)

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
• Although the underlying genetic cause of Neonatal Progeroid Syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner

(Source: Neonatal Progeroid Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Neonatal Progeroid Syndrome?

The signs and symptoms of Neonatal Progeroid Syndrome may include:

• Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth
• Intrauterine growth restriction
• Failure to thrive
• Feeding difficulties
• Distinctive craniofacial features such as:
  • A triangular face
  • Large skull with wide anterior (front) fontanelle
  • Small, underdeveloped facial bones
  • Natal teeth
  • Low-set, posteriorly (towards the back) rotated ears, ectropion
  • And/or unusually sparse scalp hair, eyebrows, and eyelashes
• Thin arms and legs with disproportionately large hands and feet
• Small fingers and toes with underdeveloped nails
• Osteopenia (low bone density)
• Horizontal nystagmus
• Developmental delay
• Mild to severe intellectual disability

Occasionally present symptoms in 5-29% of the cases:

• Flexion contracture
• Hypertriglyceridemia
• Hypospadias

(Source: Neonatal Progeroid Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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

(Source: Neonatal Progeroid Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Neonatal Progeroid Syndrome?

The complications of Neonatal Progeroid Syndrome may include:

• Failure to thrive
• Physical deformities
• Severe intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Neonatal Progeroid Syndrome 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

(Source: Neonatal Progeroid Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Neonatal Progeroid Syndrome be Prevented?

Currently, Neonatal Progeroid Syndrome may not be preventable, since it may be a genetic disorder. If there is a family history of the condition, then:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• Genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Neonatal Progeroid Syndrome? (Outcomes/Resolutions)

• The prognosis of Neonatal Progeroid Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Neonatal Progeroid Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/