Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder that is difficult to diagnose clinically. The main features of this very rare syndrome include growth retardation, lipodystrophy with localized fat masses, facial dysmorphism and dental anomalies. The patients who have so far been described, however, presented with a very variable phenotype.

In a collaborative work, international researchers including Bernd Wollnik of the Institute of Human Genetics Göttingen re-evaluated all 51 patients reported to date in the literature. To provide a clearer definition of the clinical characteristics of Wiedemann-Rautenstrauch syndrome, they took the originally described patients as a standard and reviewed all available clinical data of those patients whose diagnosis of WRS they considered as correct and added three further, unpublished patients.

The results of this clinical study have been published in the American Journal of Medical Genetics Part A:

Wiedemann–Rautenstrauch syndrome: A phenotype analysis
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC
Am J Med Genet Part A 2017; Apr 26. doi: 10.1002/ajmg.a.38246. [Epub ahead of print]