Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Berk-Tabatznik syndrome


Other Names for this Disease
  • Cleft nare, brachydactyly, short stature dwarfism
  • Congenital optic atrophy and brachytelephalangy
  • Kyphosis brachyphalangy optic atrophy
  • Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.
On this page

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Berk-Tabatznik syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cleft nare, brachydactyly, short stature dwarfism
  • Congenital optic atrophy and brachytelephalangy
  • Kyphosis brachyphalangy optic atrophy
  • Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.