Top five conditions seen at rare diseases clinic announced

The leading five rare diseases seen at the nation’s first rare disease clinic at the Children’s Hospital of Fudan University are hemophilia, congenital curved spine, tuberous sclerosis, progressive muscular dystrophy and hepatolenticular degeneration, according to the hospital.

With the fall of World Rare Disease Day on Thursday, the hospital launched a charity consultation on Wednesday to promote the knowledge of rare diseases and call for more social awareness.

Rare diseases are those with incidence lower than one in every 500,000, or lower than one in every 10,000 among newborn babies.

There are over 7,000 known rare diseases in the world, about 80 percent of which are inherited. Half of those with rare diseases show symptoms upon delivery or during childhood.

With over 16.8 million people with rare diseases in China, the reasons for the majority are still unknown.

Targeting rare disease diagnosis and treatment, the hospital set up the nation’s first rare disease clinic in 2017 — so far 29 rare diseases have special clinical services in the hospital.