SNP Shot: Genomic Insights

Weyers acrofacial dysostosis is a condition impacting the development of teeth, nails, and bones. Individuals with this disorder may exhibit dental issues such as small, peg-shaped teeth, a reduced number of teeth (hypodontia), or a single front tooth instead of the usual two. The lower jaw (mandible) might also have an abnormal shape. Furthermore, fingernails and toenails are often abnormally small or malformed. Short stature is common, and some individuals have extra fingers or toes (polydactyly).

Weyers acrofacial dysostosis shares characteristics with Ellis-van Creveld syndrome, a more severe disorder. In addition to dental and nail abnormalities, individuals with Ellis-van Creveld syndrome experience significant short stature and frequently have congenital heart defects. Both conditions arise from mutations in the same genes.

Inheritance:

Weyers acrofacial dysostosis follows an autosomal dominant inheritance pattern. This means that only one copy of a mutated EVC or EVC2 gene in each cell is enough to cause the disorder. Typically, an affected individual inherits the mutated gene from a parent who also has the condition.