Special consultation - limb malformation

Innate malformations of the skeleton appear relatively frequent, particularly in the limbs. The occurring defects are extremely variable, and appear isolated or combined with other changes.
For a perfect development and growth of the skeleton  a large amount in genes is required, so that the genetic causes for malformations are varied and their appearance cannot be explained yet completely by their molecular interference.
On this account the  limb malformation are classified by clinical aspects, which often overlap with molecular defects.

Limb malformations can be classified according to:

  • Polydactyly(multiplication of digits)
  • Reductionabnormality(loss of digits)
  • Brachydaktyly(shortening of digits)
  • Syndaktyly(fusion of digits)

The spectrum of syndromes presents a challenge to the clinical diagnostics. However, the correct diagnostics is a condition for a statement to the forecast and for initiating, e.g., of therapeutic measures.

The institute of medical genetics deals clinically and in the research with the diagnostics and the causes of extremity malformation.
We offer special consultations for extremity malformations in which we can deal specifically with the problems of these patients and arrange necessary measures.

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