OBSOLETE: Oculocerebroacral syndrome

Oculocerebroacral syndrome, also sometimes referred to as Kaufman oculocerebrofacial syndrome, is an extremely rare genetic condition that was described in only a very small number of patients in the medical literature. The term is now considered obsolete in some classification systems, meaning it may have been reclassified or merged with another recognized condition. This syndrome was reported to affect multiple body systems, particularly the eyes (oculo-), the brain (cerebro-), and the limbs or extremities (acral). Patients described with this condition had a combination of eye abnormalities, intellectual disability or developmental delays, and abnormalities of the hands and feet. Facial features that appeared distinctive were also noted in some cases. Because so few individuals were ever reported, the full range of symptoms and the natural history of this condition remain poorly understood. There is no specific targeted treatment; management has been supportive and focused on addressing individual symptoms such as vision problems, developmental delays, and any structural abnormalities. Families affected by this condition should work closely with a clinical geneticist to clarify the diagnosis, as advances in genetic testing may now allow a more precise classification of the underlying cause.

Bring these to your next appointment

• Q1.Has modern genetic testing been done to confirm or reclassify this diagnosis?,What specific therapies would benefit my child's development the most right now?,How often should my child have eye examinations and brain imaging?,Are there any clinical trials or research studies we could participate in?,What educational supports should we request for my child at school?,Should other family members be tested to understand the inheritance pattern?,What specialists should be part of my child's ongoing care team?

Common questions about OBSOLETE: Oculocerebroacral syndrome