Variants
Sign InSign Up

Isolated cryptophthalmia

Your Results

Sign In

Description

Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

8

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    123570

  • Orphanet

    91396

  • HPO
  • Medgen

    C1852453

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.