Research may bring test for contracted foal syndrome

Research may bring test for contracted foal syndrome Research at the University of Kentucky may help to reduce the number of foals being born with severe deformities. "When a foal is born with limb contractures preventing it from standing or walking normally, it is said to have contractures, or Contracted Foal Syndrome (CFS)" write  Dr Teri Lear and Dr Ernie Bailey in the latest edition of Equine Disease Quarterly. Working at the Maxwell H Gluck Equine Research Center they aim to identify a genetic basis for Contracted Foal syndrome (CFS). They hope eventually to develop a diagnostic test that will allow stud farm managers to avoid matings that give a high risk of producing an affected foal. Contracture of the limbs is a common problem in new born foals. Indeed, it is the most common congenital anomaly in horses diagnosed at the University of Kentucky's Livestock Disease Diagnostic Center (LDDC).

Research at the University of Kentucky may help to reduce the number of foals being born with severe deformities

The severity  of the contracture varies, as does the number of limbs affected. Affected foals may respond to treatment , such as surgery, or splinting the limb.

More severe cases may have contractures of all four limbs and may exhibit other anomalies, including neck flexion (torticollis), facial bone deviation (wry nose), and spinal curvature (scoliosis). Foals may be affected so severely as to cause difficulty with foaling.

Muscle, tendon, and ligament tissues appear normal when examined microscopically by pathologists.

Affected foals are often thought to have suffered poor positioning in the uterus , or have been exposed to some dietary or other insult during pregnancy.

CFS is not widely recognised as a genetic disease. Nevertheless, there is some evidence from breeding records that hereditary  factors may be involved.

The condition has  similarities to the  condition in humans known as distal arthrogryposis (DA) , which is caused by one or more genes that control skeletal muscle contraction.

Dr Lear explains "These gene mutations cause abnormal muscle protein production that disrupts normal muscle function. The skeletal muscles contract but are unable to relax, causing limb contractures during fetal development. Most of the mutations are inherited but  the mode of inheritance can vary. Symptoms can vary markedly within and between families. "

"The availability of the horse genome sequences is facilitating our study of CFS. The DNA sequence information for any horse gene of interest can be downloaded from Internet databases. The necessary tools can be prepared  for sequencing candidate genes from affected and non-affected individuals."

Lear and Bailey have selected candidate genes for study based on the gene mutations known to cause DA in humans. By comparing the DNA of affected and un-affected individuals they hope to identify the gene or genes responsible.

"Even though this research has begun, success will depend on continued support from the horse industry, especially through providing research samples from foals; and information on sires and dams that have produced one or  more foals with   CFS. All information is  kept confidential, including the identity of horses and farms.  We  expect  one day to develop a diagnostic test that will provide information to allow farm managers to avoid matings that will produce CFS foals and to determine which foals will respond to treatment. The participation of breeding farms, veterinarians, and horse owners is imperative if the cause of CFS is to be identified."

For more details see:
Contracted Foal Syndrome
Dr.Teri Lear  Dr Ernie Bailey.
Equine Disease Quarterly (2008) 17, no 4.

Reproduced with kind permission of Mark Andrews BVM&S CertEP MRCVS
© Copyright Mark Andrews  - Equine Science Update 2008

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