Malformations of the skull, abnormalities of the face and extremities, dysfunction or malformation of organs, short stature, tall stature, and developmental delay. This combination of multiple symptoms may be indicative of a syndromal condition and may be present from birth or may develop during adolescence. Many congenital syndromes are rare, but clinically and genetically syndromes are often very heterogeneous. In addition, due to nonspecific or overlapping symptoms, many patients cannot be clearly assigned clinically to a known syndrome. This makes their diagnosis a challenge. Therefore, it makes sense to care for patients with an interdisciplinary team in order to bundle experience and expertise. With our syndromic consultation, many years of clinical and diagnostic experience in syndromes and our comprehensive range of methods, we can optimally support you in the clarification of the causes of syndromes.
If a syndromic genetic disease is suspected, a step-by-step diagnosis may be useful in non-specific cases, e.g. (in increasing resolution):

• Chromosome analysis
• CMA or optical genome mapping
• Exome, genome and/or long-read sequencing

In some patients, the analysis of individual genes that cannot be adequately assessed by stepwise diagnostics (e.g. fragment length analysis in the case of suspected fragile X syndrome) can also be helpful.