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 Fibrillin 1 (FBN1) gene.

As of 2017, there have been over 51 cases of NPS. 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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References

Category:Syndromes
Category:Birth defects