Variants
Sign InSign Up

Hecht syndrome

Your Results

Sign In

Description

The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability (summary by Veugelers et al., 2004).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

115

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    158300

  • Orphanet

    3377

  • HPO
  • Medgen

    C0265226

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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