FaCD Online Syndrome Fact Sheet

Last updated: 04 Aug 2011

Name: Hay-Wells syndrome

Synonym: Familial Ankyloblepharon, Ectodermal Defects and Cleft Lip and Palate syndrome, AEC

Mode of Inheritance: AD

Genes

TP73L/TP63, mapped to 3q27

Tumor features (possible)

Wilms' tumor (nephroblastoma)

Non-tumor features

anhidrosis / hypohidrosis
ankyloblepharon
cleft lip
cleft palate
hypotrichosis
nails, dystrophic

Comment

This is one of the ectodermal dysplasia syndromes[1]. Drut et al reported a girl with bilateral Wilms tumor and Hay-Wells syndrome as well as familial reticulate pigmentation of the skin[2].

References

[1] Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol. 2010 Sep;163(3):624-9.
[2] Drut R, Pollono D, Drut RM. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin. American journal of medical genetics 2002; 110(2):164-9.