Dubowitz Syndrome

Common Name(s)

Dubowitz Syndrome

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. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dubowitz Syndrome" for support, advocacy or research.

Dubowitz Syndrome Family Support

We provide family-friendly, helpful, and relevant information for families of children with Dubowitz Syndrome.

Last Updated: 16 Oct 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dubowitz Syndrome" for support, advocacy or research.

Dubowitz Syndrome Family Support

We provide family-friendly, helpful, and relevant information for families of children with Dubowitz Syndrome.

http://www.dubowitzsyndrome.net

Last Updated: 16 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dubowitz Syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
 

Author(s): Jana-Katharina Dieks, Alessandra Baumer, Ekkehard Wilichowski, Anita Rauch, Matthias Sigler

Journal: Eur. J. Pediatr.. 2014 Sep;173(9):1253-6.

 

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate ...

Last Updated: 31 Dec 1969

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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
 

Author(s): Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti, Blanche P Alter, Leslie G Biesecker, Sharon A Savage

Journal:

 

Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically ...

Last Updated: 31 Dec 1969

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Identification of the DNA repair defects in a case of Dubowitz syndrome.
 

Author(s): Jingyin Yue, Huimei Lu, Shijie Lan, Jingmei Liu, Mark N Stein, Bruce G Haffty, Zhiyuan Shen

Journal: PLoS ONE. 2013 ;8(1):e54389.

 

Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dubowitz Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.