Variants
Sign InSign Up

Treacher-Collins syndrome 1

Your Results

Sign In

Description

Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.

GeneReviews

  • Mode of Inheritance

    VARIANTS

    141

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet
    • HPO
    • Medgen

      CN119605

    © 2024 Biocodify. All rights reserved.

    TwitterTwitter

    Product

    HomePricingDashboard

    Stay up to date

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