Roberts-SC phocomelia syndrome

Roberts-SC phocomelia syndrome is a rare genetic condition that affects how the body develops before birth. It is known for causing differences in limb formation and facial features. The syndrome is part of a group of genetic disorders and is inherited in an autosomal recessive pattern, meaning that a child must receive the altered gene from both parents to develop the condition. Because the syndrome affects growth and development from the earliest stages of life, multiple parts of the body may show differences. Information about the full spectrum of physical findings is limited, but the clinical signs at birth often include various limb and facial abnormalities.

People with this condition typically have limb abnormalities and differences in facial structure at birth. These can include shorter or missing limbs and distinctive facial features. Further details about other symptoms and variability in severity are limited in the current information.

The syndrome is caused by mutations in the ESCO2 gene. It is inherited in an autosomal recessive pattern, which means that both parents must carry a mutation in this gene for the condition to occur in their child.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research and future directions is currently limited for this condition.