There are many thousands of genetic disorders that affect physical or intellectual development (or both)
Scientists are gradually unravelling the extraordinarily complex developmental processes that turn a fertilised egg into an adult human. Some insights come from studies of people whose physical development differs from normal patterns.
Occasionally, genetic mutations can cause the finely choreographed pathway from egg to adult to go awry. If a mutation affects a developmentally important gene, the course of development is changed.
There are many thousands of genetic disorders that affect physical or intellectual development, or both. Many give rise to distinct features, often involving the face. Specialist clinicians can usually identify these conditions on the basis of a child’s appearance as well as his or her developmental and behavioural issues.