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Genetic and Rare Diseases Information Center (GARD)

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Neonatal progeroid syndrome


Other Names for this Disease
  • Progeroid syndrome neonatal
  • Wiedemann Rautenstrauch syndrome
  • Wiedemann-Rautenstrauch syndrome
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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 premature aging syndrome in which features of human aging are apparent at birth, including larger than nomal sized head; prominent scalp veins; triangular, aged face; wrinkled skin; and decreased fat under the skin.[1] This differentiates this syndrome from other premature aging syndromes such as Hutchinson–Gilford progeria syndrome (HGPS) (more commonly called progeria) in which characteristics of premature aging typically become apparent some time after birth.[2] Although the exact cause of neonatal progeroid syndrome is unknown, it is believed to be genetic and inherited in an autosomal recessive fashion.[2] Treatment is based on the individual's specific symptoms.
Last updated: 2/16/2010

What symptoms may be seen in individuals who have Wiedemann-Rautenstrauch syndrome (WRS)?

Growth delays before and after birth (prenatal and postnatal growth retardation) and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy or lipodystrophy), causing the skin to appear abnormally thin, fragile, and wrinkled, occur. In addition, for reasons that are not understood, abnormal deposits of fat may accumulate around the buttocks, the areas around the genitals and the anus (anogenital area), and the area between the ribs and the hips (flanks).[1]

Infants and children with WRS also have distinctive malformations of the head and facial (craniofacial) area including an unusually prominent forehead (frontal bossing) and sides of the skull (parietal bossing), causing the head to appear abnormally large (pseudohydrocephalus); unusually small, underdeveloped (hypoplastic) bones of the face and abnormally small facial features; a small "beak-shaped" nose that becomes more pronounced with advancing age; and/or sparse scalp hair, eyebrows, and/or eyelashes. Most infants and children with WRS also have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of mental retardation; and severe delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation). In addition, in many cases, affected infants and children are prone to repeated respiratory infections that may result in life-threatening complications.[1]
Last updated: 2/12/2009

What causes Wiedemann-Rautenstrauch syndrome (WRS)?

The cause of WRS remains unknown; however, it is believed to be genetic and inherited in an autosomal recessive mode of inheritance.[1]
Last updated: 2/12/2009

How is Wiedemann-Rautenstrauch syndrome (WRS) diagnosed?

Diagnosis is based on clinical presentation.[1]
Last updated: 2/12/2009

What treatment is available for Wiedemann-Rautenstrauch syndrome (WRS)?

There is no effective treatment.[1] Specific management recommendations are made on an individual basis and are dependent on the unique of symptoms present in the patient..
Last updated: 2/12/2009

What type of follow-up might be suggested for Wiedemann-Rautenstrauch syndrome (WRS)?

At birth, infants with WRS should be tested to determine levels of insulin, lipids, and hormones controlled by the hypothalamus-pituitary axis (The hypothalamus is considered the coordinating center of the hormone system. It processes the signals received from other parts of the body as well as from the environment. It then delivers signals to the pituitary gland which then releases hormones that directly affects the functions of the thyroid gland, the adrenal gland, the ovaries, and the testes, as well as influencing growth, milk production, and water balance[3]). Periodic follow-up evaluations should also be performed.[1]
Last updated: 2/12/2009

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: 1/21/2014

References
  • Pivnick EK. Neonatal Progeroid Syndrome. NORD Guide to Rare Disorders. Philadelphia: Lippincott Williams & Wilkins; 2003;
  • Arboleda G, Ramirez N, Arboleda H. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?. Exp Gerontol. 2007 Oct; 42:939-943.
  • Welt CK. Hypothalamic-pituitary axis. UpToDate for Patients. October 2008; http://www.uptodate.com/patients/content/topic.do?topicKey=~ROM093_CrtCrjl. Accessed 2/11/2009.