What is the inheritance pattern of Stickler Syndrome?

Stickler Syndrome is primarily an autosomal dominant condition. This means that a mutation in just one copy of the responsible gene (typically COL2A1 or COL11A1) is sufficient to cause the disorder. Individuals with this mutation have a 50% chance of passing it on to each of their children, regardless of the sex of the child.

While the dominant inheritance is well-established, there are rare cases where Stickler Syndrome can be associated with autosomal recessive inheritance patterns, particularly if there are different mutations in the same gene or in other related genes. This complexity can arise from the molecular heterogeneity seen in conditions like Stickler Syndrome, where multiple genes can be involved. Therefore, the option indicating both autosomal dominant and autosomal recessive reflects the broader understanding of the disorder's genetic basis, aligning with the idea that there can be different modes of inheritance depending on the specific genetic context.