Hay-Wells syndrome

A rare hereditary autosomal dominant form of ectodermal dysplasia characterized by multiple morphologic abnormalities. The most common include skin erosiions on the scalp and extremities, abnormal SKIN PIGMENTATION, fused eyelids (ankyloblepharon filiforme adnatum), CLEFT LIP and CLEFT PALATE, and SYNDACTYLY. Mutations in the TP63 gene have been identified. OMIM: 106260

Also Known As:

Networked: 3 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Wounds and Injuries (Trauma)

Experts

1.	Caswell, Deborah: 1 article (10/2008)
2.	McNulty, Brianna M: 1 article (10/2008)
3.	Brechman, Anna: 1 article (06/2003)
4.	Fomenkov, Alexey: 1 article (06/2003)
5.	Fomenkova, Tanya: 1 article (06/2003)
6.	Huang, Yi-Ping: 1 article (06/2003)
7.	Osada, Motonobo: 1 article (06/2003)
8.	Ratovitski, Edward: 1 article (06/2003)
9.	Sidransky, David: 1 article (06/2003)
10.	Topaloglu, Ozlem: 1 article (06/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hay-Wells syndrome:

1.	Proteins (Proteins, Gene)FDA Link 04/01/2003 - "Delta Np63 alpha had transcriptional repressor activity in vitro, and this activity was reduced in Delta Np63 alpha proteins containing point mutations, corresponding to those found in patients with Hay-Wells syndrome. "
2.	PhosphoproteinsIBA 04/01/2003 - "The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations."
3.	keratinocyte growth factor receptorIBA 06/27/2003 - "P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome."

Therapies and Procedures

1.	Therapeutics 10/01/2008 - "Consistent, long-term acoustic pressure wound therapy improved the status of severe, recalcitrant, Hay-Wells Syndrome-associated scalp wounds."