Other Names for this Disease
- Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
- Dwarfism-eczema-peculiar facies syndrome
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drooping eyelid (ptosis), short palpebral fissures, broad and flat nasal bridge; smaller than normal head (microcephaly), mild mental retardation, and eczema. 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. Treatment is based on the person's specific signs and symptoms.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,
Last updated: 8/18/2009
- Yesikaya E, Karaer K, Bideci A, Camurdan O, Percin EF, Cinaz P. Dubowitz syndrome: a cholesterol metabolism disorder?. Genet Couns. 2008;
- Dubowitz syndrome. Online Mendelian Inheritance in Man (OMIM). December 30, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223370.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- 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.