Oculoosteocutaneous syndrome

Oculoosteocutaneous syndrome is a very rare condition that affects three main parts of the body: the eyes (oculo), the bones (osteo), and the skin (cutaneous). It is sometimes referred to by the abbreviation OOCS. People with this syndrome are typically born with a combination of eye problems, unusual bone development, and skin changes that appear together as a recognizable pattern. The eye problems can include structural abnormalities that affect vision from birth or early infancy. Bone changes may affect the shape or density of certain bones, and skin findings can include unusual pigmentation or texture changes visible at or shortly after birth. Because all three body systems are involved at once, this is considered a multi-system condition. Treatment is focused on managing each symptom individually, since there is currently no cure. Eye specialists, bone specialists, and skin specialists often work together as a team to support affected individuals. Early diagnosis is important so that vision problems and other complications can be addressed as soon as possible to give the best quality of life.

Bring these to your next appointment

• Q1.What genetic tests should we do to confirm the diagnosis and identify the specific gene involved?,How often should my child have eye exams, and what vision treatments are available?,Are there bone complications we should watch for, and how will they be monitored?,Should other family members be tested or evaluated?,Are there any clinical trials or research studies we could participate in?,What early intervention or educational support services would you recommend?,Which specialists should be part of our care team, and how do we coordinate between them?

Common questions about Oculoosteocutaneous syndrome