aniridia-ptosis-intellectual disability-familial obesity syndrome

aniridia-ptosis-intellectual disability-familial obesity syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

The syndrome is characterized by various ocular abnormalities, including aniridia and ptosis, along with systemic anomalies such as intellectual disability and obesity in affected children. The mother also exhibited alopecia and cardiac abnormalities. There are no known treatments or orphan drug designations currently under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries such as Orphanet may provide additional resources and support. Finding specialists experienced with similar conditions can also be beneficial.