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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neonatal progeroid syndrome


Other Names for this Disease
  • Progeroid syndrome neonatal
  • Wiedemann Rautenstrauch syndrome
  • Wiedemann-Rautenstrauch syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.


Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1][2][3]
Last updated: 4/15/2015

What are the signs and symptoms of neonatal progeroid syndrome?                      

The signs and symptoms of neonatal progeroid syndrome vary but may include:[1][2]
  • 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
Last updated: 4/14/2015

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.[1][2]
Last updated: 4/14/2015

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.[1][2]
Last updated: 4/15/2015

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.[2]
Last updated: 4/15/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/27/2014

References
Other Names for this Disease
  • Progeroid syndrome neonatal
  • Wiedemann Rautenstrauch syndrome
  • Wiedemann-Rautenstrauch syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.