Wiedemann-Rautenstrauch syndrome; neonatal progeroid syndrome
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Epidemiology
- rare, > 30 cases
Genetics
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]
More general terms
References
- ↑ 1.0 1.1 1.2 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
- ↑ 3.0 3.1 3.2 3.3 3.4 Neonatal progeroid syndrome Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/330/neonatal-progeroid-syndrome