Ellis-van Creveld syndrome

This is caused by the mutation of a gene on the short arm of chromosome 4. It is an extremely rare genetic disorder, with only 150 cases known throughout the world, and is characterised by multiple malformations. Those affected have short ribs, more than five fingers or toes on each hand or foot, a cleft palate, short-limbed dwarfism, narrow chests and in 60 per cent of cases a heart defect, usually a ventricular septal defect.Life expectancy is directly linked to the breathing difficulties caused by the narrow chest, as well as to the severity of the heart defect.