Variants
Sign InSign Up

Thanatophoric dysplasia, type 2

Your Results

Sign In

Description

Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

11

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    187601

  • Orphanet

    93274

  • HPO
  • Medgen

    C1300257

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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