Familial dysautonomia (1 in 30)
Problems with nervous system functioning, causing difficulties in swallowing, regulating body temperature, pain sensitivity and blood pressure. Shortened lifespan
Canavan disease
(1 in 40/57)
Normal appearance at birth. Progressive loss of neurological functioning, seizures. Typically fatal in second decade
Glycogen Storage Disease
(1 in 71)
Low sugar levels, enlarged liver/kidneys, impaired growth. Early and ongoing intervention can enable normal lifespan
Fanconi anaemia type C
(1 in 89)
Anaemia, birth defects, short stature, fatigue, hearing loss and increased risk for cancer. Typically fatal around age 30
Niemann-Pick disease type A
(1 in 90)
Fat builds up in organs, brain and nervous system causing rapid neurological decline. Typically fatal by age five
Bloom syndrome
(1 in 100)
Poor growth, increased sensitivity to sunlight, infections. Increased risk for cancer. Lifespan typically up to 30 years
Mucolipidosis IV
(1 in 100/125)
Affects brain and nervous system, causing progressive developmental delay, low muscle tone. Shortened lifespan