There are 7,600 known genetic diseases. Genetic disorders are usually caused by differences or changes in the genes that a person is born with.
These can be inherited from parents with the same condition, or who are genetic carriers of a recessive condition. They can also be a new occurrence not inherited from either parent, Dr Chin told CNA Women.
More well-known rare diseases include Down syndrome, and achondroplasia, commonly known as dwarfism, which affects bone growth. There’s also Turner syndrome and Noonan syndrome, both of which can lead to physical differences such as short stature, heart defects, and developmental or learning delays.
Rare disease can affect any body part or system, including the brain, eye, ear, heart or blood, Dr Chin said.
Some conditions, like inborn errors of metabolism – where the body cannot properly convert food into energy, leading to a buildup of toxic substances – are diagnosed in infancy. All newborns in Singapore are screened for this and affected infants are put on medical milk formulas, special diets and medication.
CRACKING THE CODE ON RARE DISEASES
Since they are so rare and symptoms often non-specific, many conditions can be difficult to diagnose.
While some are picked up in infancy, others are only diagnosed in childhood or much later, at 15, 20 or even 30 years of age, Dr Chin said. Her oldest patient was in her seventies.
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