It is possible that the main title of the report Dubowitz Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- Intrauterine Dwarfism
Disorder Subdivisions
- None
General Discussion
Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal).
Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.
Resources
The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org
Learning Disabilities Association of America
4156 Library Road
Pittsburgh, PA 15234-1349
Tel: (412)341-1515
Fax: (412)344-0224
Tel: (888)300-6710
Email: info@ldaamerica.org
Internet: http://www.ldanatl.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org