title: Syndrome of arachnomelia in Simmental cattle.
abstract: BACKGROUND
  The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964-1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease.
  
  
  RESULTS
  The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%.
  
  
  CONCLUSIONS
  We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.
authors.affiliation: Bavarian State Research Center for Agriculture, Institute of Animal Breeding, 85580 Grub, Germany. Johannes.Buitkamp@lfl.bayern.de
authors.forename: Johannes
authors.initials: J
authors.lastname: Buitkamp
authors.forename: Bernhard
authors.initials: B
authors.lastname: Luntz
authors.forename: Reiner
authors.initials: R
authors.lastname: Emmerling
authors.forename: Horst-Dieter
authors.initials: HD
authors.lastname: Reichenbach
authors.forename: Myriam
authors.initials: M
authors.lastname: Weppert
authors.forename: Benjamin
authors.initials: B
authors.lastname: Schade
authors.forename: Norbert
authors.initials: N
authors.lastname: Meier
authors.forename: Kay-Uwe
authors.initials: KU
authors.lastname: Götz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000662:veterinary*; D000818:Animals; D001947:Breeding; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics* / Q000473:pathology*; D004624:Embryo Transfer; D005260:Female; D005333:Fetus / Q000033:anatomy & histology / Q000473:pathology; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005860:Germany, West; D040582:Inheritance Patterns; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome