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Wiedemann-Rautenstrauch syndrome; neonatal progeroid syndrome
Epidemiology:
- rare, > 30 cases
Genetics:
- autosomal recessive
Clinical manifestations:
- aged appearance at birth
- prenatal & postnatal growth retardation
- subcutaneous lipoatrophy
- distinctive craniofacial features [3]
- hypotonia
- mild to severe intellectual disability [3]
- anticipated decreased life expectancy [1]
- mean life expectancy < 7 months [3]
- a few patients still alive at 20 years [1,3]
General
progeroid syndrome
References
- Wiedemann Rautenstrauch Syndrome
National Organization for Rare Diseases (NORD)
https://rarediseases.org/rare-diseases/wiedemann-rautenstrauch-syndrome/
- Wikipedia: Wiedemann-Rautenstrauch syndrome
https://en.wikipedia.org/wiki/Wiedemann%E2%80%93Rautenstrauch_syndrome
- Neonatal progeroid syndrome
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/330/neonatal-progeroid-syndrome