Learn About Acrofacial Dysostosis Weyers Type
Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).
Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide.
Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition.
University Of Virginia Plastic Surgery
Dr. Thomas Gampper, co-founder of the Aesthetic Center at the University of Virginia, now recognized as UVA Plastic Surgery, is a highly experienced and board-certified plastic surgeon located in Charlottesville, Virginia. With a focus on pediatric plastic surgery, Dr. Gampper specializes in the correction of congenital conditions, such as cleft lips, cleft palates, and birthmarks. His expertise in addressing these complex issues has made him a trusted leader in the field of reconstructive surgery for children, providing compassionate and expert care to improve both function and appearance for his young patients. Dr. Gampper MD FACS is rated as an Experienced provider by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. His top areas of expertise are Congenital Generalized Lipodystrophy, Familial Partial Lipodystrophy, Acrofacial Dysostosis Rodriguez Type, and Treacher Collins Syndrome.
Lehigh Valley Physician Group
Sri Chennupati is a Pediatric Otolaryngologist and a Pediatrics provider in Allentown, Pennsylvania. Dr. Chennupati is rated as an Experienced provider by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. His top areas of expertise are Gorlin-Chaudhry-Moss Syndrome, Crouzon Syndrome, Acrofrontofacionasal Dysostosis Syndrome, Stridor, and Adenoidectomy.
The Curators Of The University Of Missouri
Thomas Willson is a Plastic Surgeon and a General Surgeon in Columbia, Missouri. Dr. Willson has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of Acrofacial Dysostosis Weyers Type. His top areas of expertise are Acrofacial Dysostosis Nager Type, Acrodysostosis, Treacher Collins Syndrome, Acrofacial Dysostosis Weyers Type, and Osteotomy. Dr. Willson is currently accepting new patients.
Published Date: December 01, 2012
Published By: National Institutes of Health