National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Berk-Tabatznik syndrome


Other Names:
Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges; Congenital optic atrophy and brachytelephalangy; Kyphosis brachyphalangy optic atrophy; Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges; Congenital optic atrophy and brachytelephalangy; Kyphosis brachyphalangy optic atrophy; Cleft nare, brachydactyly, short stature dwarfism See More
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

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