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Berk-Tabatznik syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Synonyms

  • Berk Tabatznik syndrome
  • cleft nare, brachydactyly, short stature dwarfism
  • 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
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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