There are over 200 craniofacial syndromes. They feature premature fusion of the skull associated with an abnormal gene. Therefore, syndromes often run in families. Affected children may have other features of abnormal head and facial growth, as well as peripheral orthopaedic disorders. The common craniofacial syndromes are Crouzon, Apert, Pfeiffer, and Saethre Chotzen syndrome.
Recent laboratory studies have revealed that there are alterations in the molecular structure of particular genes which are responsible for producing protein molecules called fibroblast growth factor receptors. The role of these genes and proteins is currently being investigated in many centres throughout the world, including ours and may lead to a better understanding of these conditions, as well as potential for prenatal diagnoses in selected patients.
These genetic changes can lead to a wide range of anomalies in tissues and organs apart from the craniofacial skeleton. Genetic counselling forms an important part in the management of families affected by these conditions.