Ramos-Arroyo syndrome

Ramos-Arroyo syndrome is a very rare genetic disorder. It is characterized by several distinct features, including reduced sensation in the cornea (corneal anesthesia), abnormalities of the retina, hearing loss in both ears, and unique facial features. In addition, affected individuals may have a patent ductus arteriosus (a persistent opening in the heart), Hirschsprung disease (a disorder of the intestines), short stature, and intellectual disability. People with this condition often face a range of challenges due to the multiple systems involved. Research and clinical observation have compiled this information to help increase understanding of the condition, although much about the syndrome remains to be clarified given its rarity.

Common signs and symptoms of Ramos-Arroyo syndrome include diminished corneal sensation, abnormalities in the retinal structure, and hearing loss in both ears. Additional symptoms include unusual facial features, a heart defect known as patent ductus arteriosus, Hirschsprung disease which affects the intestines, short stature, and intellectual disability.

Ramos-Arroyo syndrome is described as a genetic disorder. This suggests that changes in genes, which are passed from parents to children, may be involved. However, no specific gene or genetic marker has been identified at this time, and more research is needed to fully understand the underlying causes of the syndrome.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

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