Diseases title

Nasopalpebral lipoma - coloboma - telecanthus )

Orpha Number: 2399

This syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. Surgery can be performed to repair the eyelid coloboma and remove the bilateral nasopalpebral lipomas.
source: Orphanet