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Genetic and Rare Diseases Information Center (GARD)

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Dubowitz syndrome


Other Names for this Disease

  • Dwarfism-eczema-peculiar facies syndrome
  • Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
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

Dubowitz syndrome is a very rare genetic and developmental disorder marked variability in signs and symptoms. The findings of Dubowitz syndrome typically include growth failure/short stature; characteristic facial features such as small triangular face, high sloping foreheard, drooping eyelid (ptosis), short palpebral fissures, broad and flat nasal bridge; smaller than normal head (microcephaly), mild mental retardation, and eczema.[1] Although the exact genetic cause of Dubowitz syndrome has not been identified, the condition is believed to be inherited in an autosomal recessive fashion based on studies of families affected by the syndrome.[2] Treatment is based on the person's specific signs and symptoms.
Last updated: 8/18/2009

References

  1. Yesikaya E, Karaer K, Bideci A, Camurdan O, Percin EF, Cinaz P. Dubowitz syndrome: a cholesterol metabolism disorder?. Genet Couns. 2008;
  2. Dubowitz syndrome. Online Mendelian Inheritance in Man (OMIM). December 30, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223370.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Dubowitz syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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 Dubowitz syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dwarfism-eczema-peculiar facies syndrome
  • Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.