Syndromes

Syndromology deals with the common occurrence of various malformations and other abnormalities, which may be present from birth or develop during adolescence.

Due to unspecific or overlapping symptoms, finding a diagnosis and choosing the appropriate diagnostic method can sometimes be a challenge. Often, genetic counseling and a diagnosis are preceded by a long medical history with frequent physician visits and examinations.

If a genetic cause has been identified, individual support as well as adapted treatment strategies can be started and possible concomitant diseases can be detected early. In affected families, statements can also be made about the likelihood of recurrence.

Even if there is not yet sufficient information about the clinical picture, identifying the cause often helps the affected families to find a constructive way of dealing with the disease and to make use of supportive measures.

Due to our many years of clinical and diagnostic experience with syndromes, as well as our comprehensive range of methods, we are able to provide you with optimal support in identifying the cause.

An appointment in the genetic consultation hour or a genetic diagnosis should be considered, among others, for a child with the following abnormalities:

• congenital malformations and/or signs of dysmorphia
• developmental delay
• intellectual disability
• suspected growth disorder
• neuromuscular diseases, epilepsies or ataxias
• skeletal diseases
• hearing disorders, eye diseases