What is Neonatal progeroid syndrome?
'''Neonatal progeroid syndrome''', also known as '''Wiedemann-Rautenstrauch syndrome''' is an [[Allele|autosomal]] [[recessive]] [[progeroid syndrome]]. Is characterized by low [[birth weight]] and old-born baby appearance, with rare hair, [[Long|elongated]] nose, unexplained [[cranial stitches]], a characteristic facial [[dysmorphia]] associated with fat loss, and mild [[Intellectual disability|mental retardation]]. The disease results from damage to the [[Fibrillin 1|FBN1]] gene. There have been over 51 cases of NPS.<ref>{{cite journal|url=http://view.ncbi.nlm.nih.gov/pubmed/28447407|title=Wiedemann-Rautenstrauch syndrome: A phenotype analysis.|first1=Stefano|last1=Paolacci|first2=Debora|last2=Bertola|first3=José|last3=Franco|first4=Shehla|last4=Mohammed|first5=Marco|last5=Tartaglia|first6=Bernd|last6=Wollnik|first7=Raoul|last7=Hennekam|date=26 April 2017|journal=American Journal of Medical Genetics. Part A|volume=173|issue=7|pages=1763–1772|doi=10.1002/ajmg.a.38246|pmid=28447407|s2cid=20462288|via=CiteULike}}</ref> 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. == Related pages == * [[Lizzie Velasquez]] ==References== {{reflist}} [[Category:Syndromes]] [[Category:Birth defects]]