Coloboma of superior eyelid

Get in touch with RARE Concierge.

Contact RARE Concierge

Coloboma of superior eyelid

Synonyms: Superior palpebral coloboma

Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral partial or full-thickness variably sized defect of the superior eyelid ranging from a small notch to complete absence of the entire lid which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated associated with other anomalies (e.g. ocular/orbital and facial) or as part of a syndrome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

Newly diagnosed with
Coloboma of superior eyelid?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.