Neonatal progeroid syndrome
Neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome is an autosomal recessive progeroid syndrome. Is characterized by low birth weight and old-born baby appearance, with rare hair, elongated nose, unexplained cranial stitches, a characteristic facial dysmorphia associated with fat loss, and mild mental retardation. The disease results from damage to the FBN1 gene.
There have been over 51 cases of NPS.[1] Rarely do they reach adulthood. The average life expectancy is 7 months. The syndrome was first described in 1979 by Hans-Rudolf Wiedemann, who previously described two cases of the disease: one in 1966 and another in 1977. Thomas Rautenstrauch in 1977 recognized the syndrome of two siblings as Progeria.
It is associated with abnormalities in bone maturation, lipid and metabolism. It iss very rare - less than 1 in million births.
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change- ↑ Paolacci, Stefano; Bertola, Debora; Franco, José; Mohammed, Shehla; Tartaglia, Marco; Wollnik, Bernd; Hennekam, Raoul (26 April 2017). "Wiedemann-Rautenstrauch syndrome: A phenotype analysis". American Journal of Medical Genetics. Part A. 173 (7): 1763–1772. doi:10.1002/ajmg.a.38246. PMID 28447407. S2CID 20462288 – via CiteULike.