Which family history findings are characteristic of arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

Review the history of children with arthrogryposis and other affected family members. Look for the presence of hyperextensibility, dislocated joints, dislocated hips, and clubfeet in other family members. Inquire about increased incidence of congenital contractures in second-degree and third-degree relatives.

Consanguinity increases the chance that both parents carry the same disease gene. Consanguinity is more common in families with rare recessive diseases than in those with common recessive diseases.

Some chromosomal abnormalities dramatically increase with maternal age, and single-gene dominant mutations can increase with paternal age.

Look for marked intrafamilial variability; the parent may be very mildly affected or may have had contractures early in infancy. Review previous miscarriages or stillbirths.


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