Neonatal progeroid syndrome
- Progeroid syndrome neonatal
- Wiedemann Rautenstrauch syndrome
- Wiedemann-Rautenstrauch syndrome
Your QuestionMy niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is neonatal progeroid syndrome?
- What symptoms may be seen in individuals who have Wiedemann-Rautenstrauch syndrome (WRS)?
- What causes Wiedemann-Rautenstrauch syndrome (WRS)?
- How is Wiedemann-Rautenstrauch syndrome (WRS) diagnosed?
- What treatment is available for Wiedemann-Rautenstrauch syndrome (WRS)?
- What type of follow-up might be suggested for Wiedemann-Rautenstrauch syndrome (WRS)?
- How can I find a genetics professional in my area?
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.
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:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- 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. http://www.ncbi.nlm.nih.gov/pubmed/17728088.
- 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.