? Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) also known as Hay-Wells Syndrome, is one of a group of rare ED syndromes. AEC is a potentially life threatening autosomal dominant syndrome caused by mutations in the p63 gene. The purpose of the 2006 International Research Symposium for AEC Syndrome is to review the progress that has been made in recent years in research related to this rare disease and to inform research directions.
Specific aims of this conference are: 1)To have a broad array of researchers present available data on molecular genetics, pathology and pathophysiology related to AEC. 2)To develop a uniform and coordinated protocol to the diagnosis of patients with AEC. 3) To initiate research protocols. 4) To establish a coordinated approach to obtain natural history information (with focus on the dermatologic, ophthalmological, otolaryngologic, gastrointestinal, genitourinary, dental, growth, development, nutrition, audiologic and cognitive manifestations of AEC), treatment outcomes data, and tissue samples to facilitate coordinated basic and translational research.
These aims will be achieved through researchers' presentations and discussions, selected patient evaluations with data and sample collection, and subsequent analysis and study. This conference has significant implications for public health, in addition to having major benefits for the care of individuals with AEC. There is potential for increased understanding of the function of p63, genotype, phenotype correlations, and mechanisms of tissue differentiation and wound healing that will have broad application. ? ? ?
| Fete, Mary; vanBokhoven, Hans; Clements, Suzanne E et al. (2009) International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Am J Med Genet A 149A:1885-93 |
