Rare diseases in children: the body’s signals that may indicate its presence

Heart disease, growth abnormalities, osteoporosis, and intellectual impairment can be signs of the body that, when accompanied by other conditions, may indicate the presence of a rare disease. An in-depth examination of symptoms, diagnosis, treatments

To know how to be receptive to the presence of special signals from the bodyin connection with certain pathologies or conditions, can help parents understand it something wrong, and find out more by contacting the relevant specialists. It also points to greater attention for the new parents in-depth edition dedicated to rare diseases in the digital magazine At the health schoolbyDepartment of Healthdirected by Professor Alberto Villani, created in collaboration with the Scientific Direction and the complex structure of rare diseases and medical genetics inInfant Jesus Hospital.

Underestimated diseases
«According to recent studies, from the comparative analysis of the five largest world databases number of rare diseases is greatly underestimated – explains in the editorial office Professor Bruno Dallapiccola, scientific director of the hospital – They would in fact be about approx. 10,400 instead of the approximately 8,000 commonly stated. Rare diseases strike between 3 and 6% of the population: 300 million people in the world, 30 million in Europe and at least 2 million in Italy ».

From the body’s signals
So how should one be careful about intercepting any signals from an early age? In the volume is noted how heart disease, growth abnormalities (surplus and deficiency), osteoporosis and intellectual disability may be signals from the body that if accompanied by other pathologiesmay indicate the presence of a rare disease.
In the volume, it is noted that heart malformations in 30% of cases may be part of rare genetic diseases with even extracardial involvement. The text then explains how proper skeletal growthand what may be signs of anomalies in the case of genetic syndromes or pathologies that lower or raise stature.
Again, parents are warned when they are in the presence of frequent bride in children, not caused by trauma, chronic illness or therapy.
Therefore, it is important to always contact a specialist who will be able to assess the need for a genetic study confirms any diagnostic suspicion.

For the needs of families
“What does my son have? Can it be cured? What will be his future?”. These are the most frequently asked questions that parents want answered. About 12% of rare diseases are congenital, 40% affect children in the first two years of life, 60-70% l of pediatric age, at least 80% have a genetic origin.85% of these diseases are actually ultra-rare with frequencies below one case per million.

The severity of the diagnosis
Despite the technological advances that have led to a real “genomic revolution”, diagnosis remains a difficult goal to achievewith a average delay of 4.8 years1/3 of the diagnoses were originally incorrect, 6% of globally regarded patients who remain undiagnosedwith peaks of 40-50% among pediatric patients with complex phenotypes, intellectual disabilities, and dysmorphisms.

The therapies
On average, a child with a rare disease needs 5 different specialists throughout life. Around the rain 60% of patients with rare diseases have treatment able counting the natural clinical history of their condition, but only 30% of these have treatments available that can achieve a significant remission of symptoms.


Il Bambino Gesù administers the largest national series of rare patients of pediatric age. That 52% of the research projects and clinical trials conducted by the hospital relate to rare diseases and cancers.
Bambino Gesù also hosts the Italian headquarters Orphan networksthe international database of rare diseases, e.g. is part of 20 European Reference Network (ERN) networks sharing knowledge and research projects and coordinating the treatment of rare patients in Europe. Since 2016, it has activated one clinic dedicated to rare patients without diagnosis.

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