How to cite this article: Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. 2009. Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients. Am J Med Genet Part A 149A:1916–1921.
Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients†
Article first published online: 12 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 1916–1921, September 2009
How to Cite
Sutton, V. R., Plunkett, K., Dang, D. X., Lewis, R. A., Bree, A. F. and Bacino, C. A. (2009), Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients. Am. J. Med. Genet., 149A: 1916–1921. doi: 10.1002/ajmg.a.32791
- Issue published online: 20 AUG 2009
- Article first published online: 12 AUG 2009
- Manuscript Accepted: 26 JAN 2009
- Manuscript Received: 24 AUG 2008
- National Foundation for Ectodermal Dysplasias (NFED)
- ectodermal dysplasia;
- congenital ectodermal defect;
- craniofacial abnormalities;
- TP63 protein;
- genetic heterogeneity;
- medical genetics
Ankyloblepharon–ectodermal dysplasia–cleft lip/palate (AEC) syndrome and Rapp–Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp–Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far. © 2009 Wiley-Liss, Inc.