Stickler syndrome, type 5

Stickler syndrome, type 5 is a rare genetic condition. It is an autosomal recessive form of Stickler syndrome caused by a mutation in the COL9A2 gene. This mutation leads to changes in collagen, a protein that plays a key role in the structure of connective tissues throughout the body. People with this condition fall under the broader range of Stickler syndromes, a group of disorders that can affect multiple parts of the body. Information about how the condition affects everyday life is limited, but understanding that the cause is linked to the COL9A2 gene helps guide current research and genetic studies.

Information about symptoms is currently limited for this condition.

This condition is caused by a mutation in the COL9A2 gene. The disorder is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene must be present for the condition to occur.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.