Syndrome de Marfan den-i.lu asbl

13/02/2026

12/02/2026

💊 Treatments are essential for people living with a rare disease - but access remains unequal across Europe.

While the EU Orphan Medicinal Products Regulation has supported the development of over 200 authorised orphan medicines since 2000, many patients still cannot access these therapies due to national pricing and reimbursement barriers, delays, and uneven availability across countries.

At EURORDIS, we work to ensure that rare disease treatments are not only developed, but also accessible, affordable, consistently available, and effective for all patients, regardless of where they live.

We advocate for a coordinated European pathway from research to access, stronger collaboration on pricing and negotiations, and decision-making processes that fully integrate patient needs and experience - informed by our member organisations and surveys.

Our ambition is clear: to ensure that rare disease treatments are not only developed, but also effective, affordable, and consistently available for all patients, regardless of where they live.

📖 Learn more on access to treatments for rare diseases: https://go.eurordis.org/treatments

10/02/2026

📊 Rare diseases affect 5% of the global population, that’s over 300 million people. Yet access to diagnosis, care, and treatment still depends on where you live.

Around the world, disparities in healthcare systems, specialist availability, and coverage mean that too many people with a rare disease go without the care they need.

⚖️ Equality would mean offering everyone the same system.
💜 Equity for rare diseases means acknowledging that not everyone starts from the same place, and committing to policies and investments that close the gap.

👉 Learn more about equity: https://go.rarediseaseday.org/equity

09/02/2026

09/02/2026

Pri otrocih z Marfanovim sindromom ali pri tistih, ki kažejo znake tega sindroma, je eden izmed najbolj pogostih, a pogosto spregledanih simptomov izjemno hitra rast. Tak otrok že zelo zgodaj začne izstopati po višini in pogosto preraste svoje vrstnike že v vrtcu, zgodnji osnovni šoli ali še posebej v času adolescence. Okolica in včasih tudi starši to pogosto dojemajo kot prednost ali kot povsem običajno dedno značilnost, vendar je pomembno vedeti, da lahko hitra in nesorazmerna rast, skupaj z dolgimi okončinami, dolgimi prsti in vitko postavo, nakazuje na vezivnotkivno motnjo, kot je Marfanov sindrom. Hitra rast namreč ni le estetska posebnost, temveč lahko spremlja tudi druge resne zdravstvene zaplete. Marfanov sindrom lahko vpliva na srce, ožilje, oči in hrbtenico, zato je zgodnje prepoznavanje izjemno pomembno. Pravočasna diagnoza omogoča redno spremljanje in preprečevanje resnih zapletov, ki so lahko življenjsko ogrožajoči. Če otrok izrazito izstopa po višini, ima zelo dolge roke, noge ali prste, težave z držo, pogoste bolečine v hrbtenici ali težave z vidom, je smiselno, da se starši posvetujejo s pediatrom ali ustreznim specialistom. Zavedanje in prepoznavanje teh znakov lahko pomembno prispevata k pravočasni obravnavi, saj hitra rast ni vedno zgolj posledica genetike.

In children with Marfan syndrome or in those who show signs of this condition, one of the most common yet often overlooked symptoms is extremely rapid growth. Such a child begins to stand out in height at a very early age and often outgrows their peers already in kindergarten, early primary school, or especially during adolescence. Parents and the surrounding environment frequently perceive this as an advantage or as a normal hereditary trait, but it is important to understand that rapid and disproportionate growth, together with long limbs, long fingers, and a slender build, may indicate a connective tissue disorder such as Marfan syndrome. Rapid growth is not merely an aesthetic characteristic, but can be associated with other serious health complications. Marfan syndrome can affect the heart, blood vessels, eyes, and spine, which is why early recognition is extremely important. Timely diagnosis allows for regular monitoring and prevention of serious, potentially life-threatening complications. If a child stands out significantly in height, has very long arms, legs, or fingers, posture problems, frequent back pain, or vision problems, it is advisable for parents to consult a pediatrician or an appropriate specialist. Awareness and recognition of these signs can play a crucial role in timely care, as rapid growth is not always just a matter of genetics.

07/02/2026