RASopathies are congenital diseases that manifest in childhood with symptoms and potential
complications, typically associated with an elevated tumour predisposition risk. The
heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal
systems and skin, and modified growth pattern. From molecular perspective, the function
of a key protein involved in Ras signalling is impaired, leading to disrupted regulation
of cell growth and division. It is crucial to uncover genetic history, analyse tumour
and cardiac involvement pattern along four generation pedigree and depict minor anomaly
pattern. Upon clinical suspicion a stepwise approach to molecular testing is recommended
to confirm or rule out the specific RASopathy. Post-test genetic counselling should
address potential complications, developmental and follow-up strategies in line with
current guidelines. Cascade pedigree segregation analysis according to the inheritance
pattern should be offered to family planning parents and potentially affected family
members. In case of certain specific organ involvement or complications, targeted
therapeutics are available, highlighting the importance of early diagnosis.
