Benefit from groundbreaking hints to clarify syndromes

 

Skull malformations, abnormalities of the face and extremities, dysfunctions or malformations of organs, short stature and delayed development. If different symptoms occur simultaneously, doctors speak of a syndrome. This combination of several symptoms can be present from birth or evolve during childhood. Many congenital syndromes are rare. Therefore, the precise genetic cause is often not yet fully known. And most of the time syndromes are clinically as well as genetically very heterogeneous. In addition, due to non-specific or overlapping symptoms, many patients cannot be clearly assigned to a known syndrome. This makes their diagnosis a challenge. With our syndrome consultation, many years of clinical and diagnostic experience with syndromes and our comprehensive range of methods, we can optimally support you in clarifying the causes of syndromes. A diagnosis is often a relief for patients and their families. It helps to cope with the disease and opens the way to self-help groups. Information about the genetic cause and the pattern of inheritance helps to assess the risk of recurrence in the case of an existing childbearing wish.

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