SNP Shot: Genomic Insights

Ellis-van Creveld syndrome is a genetic bone growth disorder leading to significant short stature, also known as dwarfism. Individuals affected by this syndrome exhibit shortened forearms and lower legs, along with a narrow chest and short ribs. Other hallmarks of Ellis-van Creveld syndrome include extra digits on the hands and feet (polydactyly), abnormal development of fingernails and toenails, and dental irregularities. Notably, over 50% of those with this condition are born with a congenital heart defect, potentially leading to severe or fatal health complications.

Weyers acrofacial dysostosis shares some similarities with Ellis-van Creveld syndrome but is a milder condition. Both disorders involve dental and nail abnormalities; however, individuals with Weyers acrofacial dysostosis generally have less severe short stature and typically do not experience heart defects. Genetic mutations in the same genes cause both conditions.

Inheritance:

Ellis-van Creveld syndrome is inherited following an autosomal recessive pattern. This inheritance pattern requires that both copies of the relevant gene within each cell have mutations for the condition to manifest. Individuals with one copy of the mutated gene are called carriers, and the parents of a child with an autosomal recessive disorder are typically carriers who themselves do not exhibit symptoms of the condition.