Prader-Willi syndrome is a genetic disease that occurs at birth and can take many forms. The disease is in fact linked to a large number of genetic variants, which cause very different symptoms.

The first symptom is the severe lack of muscle tone present since birth, which makes swallowing difficult. From the age of two, symptoms related to behavior and learning begin to appear. The child is never satiated, which in the long run can lead to severe obesity. Moreover, he has learning difficulties and obsessive-compulsive behaviors. Sometimes, symptoms similar to those of the autistic spectrum occur.

Those suffering from Prader-Willi syndrome tend to have peculiar facial features:

• narrow forehead;
• almond eyes;
• mouth turned downwards;
• scoliosis;
• thin upper lip;
• small hands and feet;
• short.

The syndrome is caused by genetic abnormalities concentrated on chromosome 15 inherited from the father. The maternal genes present in this area are not active, so the paternal anomalies are enough for the disease to manifest. Familial cases are rare: more often than not, Prader-Willi syndrome occurs due to sporadic anomalies.

The diagnosis always starts from clinical observation and genetic analysis is used to confirm it. For couples who have already had a child with the disease, prenatal diagnosis is possible.

Source: telethon.it