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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Metaphyseal acroscyphodysplasia


Other Names for this Disease

  • Bellini Chiumello Rimoldi syndrome
  • Bellini syndrome
  • Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly
  • Wedge-shaped epiphyses of knees
  • Wedge-shaped epiphyses of the knees with mental retardation and short stature
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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Metaphyseal acroscyphodysplasia. We will answer your question and update these pages with new resources and information.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Metaphyseal acroscyphodysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bellini Chiumello Rimoldi syndrome
  • Bellini syndrome
  • Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly
  • Wedge-shaped epiphyses of knees
  • Wedge-shaped epiphyses of the knees with mental retardation and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.