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Home > Services > JHCH Paediatric Orthopaedic Department > Treatment of Genetic Skeletal Disorders at John Hunter Children’s Hospital
 
Treatment of Genetic Skeletal Disorders at John Hunter Children’s Hospital

A genetic disorder can be any condition caused by an abnormality in a person’s genes or chromosomes.  This is an abnormality present in the genetic make-up of a person since their conception.

Like all tissues in the body, the bones and muscles can be affected by genetic disease.  Genetic disorders that affect the bones and muscles only, are not common.  Genetic problems that affect bones and muscles are usually related to a syndrome (a group of disorders that is given a single name).  The bone and muscle problems are often only a part of a syndrome.

Listed below are fact sheets, useful links and support groups for more common genetic disorders that affect muscles and bones:

Achondroplasia

Arthrogryposis

Brittle bone disease

Cerebral palsy

Chondrodysplasia

Club feet

Connective tissue dysplasia

Developmental dysplasia of the hip

Dwarfism

Ehlers-Danlos syndrome

Klinefelter syndrome

Klippel-feil syndrome

Marfan

Muscular dystrophy

Osteogenesis imperfecta

Perthes disease

Rare chromosome disorders

Short stature

Spina bifida

Talipes Equinovarus

Disclaimer
It should be noted that this document reflects what is currently regarded as a safe and appropriate approach to care. However, as in any clinical situation there may be factors that cannot be covered by a single set of guidelines, this document should be used as a guide, rather than as a complete authorative statement of procedures to be followed in respect of each individual presentation. It does not replace the need for the application of clinical judgment to each individual presentation.
   



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