trisomy 22

Schmid-Fraccaro syndrome/Trisomy 22

A rare genetic disease caused by partial trisomy or tetrasomy of the chromosome 22. Characterised by eye abnormalities such as coloboma (cat’s eye syndrome) and anal atresia (absent/blocked anal opening). Besides cognitive impairment and late mental development, other symptoms such as scoliosis, late motor skills development and cardiac problems are present.