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
- 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
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.
- Arboleda G, Morales LC, Quintero L, Arboleda H. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. Am J Med Genet A. July 2011; 155A(7):1712-1715.
- Wiedemann Rautenstrauch Syndrome. NORD. 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1104/viewAbstract.
- Wiedemann-Rautenstrauch syndrome. Orphanet. March 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455.