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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Grubben de Cock Borghgraef syndrome


Other Names for this Disease

  • Developmental delay - hypotonia - extremities hypertrophy
  • Growth retardation, small and puffy hands and feet, and eczema
  • Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
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.
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Please contact us with your questions about Grubben de Cock Borghgraef syndrome. 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 an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Grubben de Cock Borghgraef syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Developmental delay - hypotonia - extremities hypertrophy
  • Growth retardation, small and puffy hands and feet, and eczema
  • Severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.