The syndrome is a rare genetic condition named after the clinician who first described in 1964. The primary features of the syndrome can include neutropenia. This can lead to reduced ability to fight general illness and mouth ulcers, gum disease, tooth decay, ear infections etc. Other primary features can include inability to produce enough enzymes to digest food sufficiently, bone abnormalities and growth retardation.
Some children also have developmental delay although many catch up by school age.
A minority have severe learning difficulties. Most have normal IQs. There is a risk that children may be inappropriately treated and cared for. Consequently the primary purpose of this site is to help facilitate and co-ordinate information exchange between support groups, clinical professionals and families in similar circumstances. It is also hoped that it will help clinicians identify the signs and symptoms, diagnose promptly and develop appropriate multi-disciplinary treatment regimes.