1. Dubowitz Syndrome 1 dubowitz syndrome, a look at the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome272.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Dubowitz syndrome 1 Synonym dwarfism-eczema-peculiar facies syndrome Summary A syndrome of intrauterine dwarfism, short stature, mental retardation, sparse hair, eczema, and characteristic facies. The phenotype varies from normal growth and head circumference with mild psychomotor retardation and lack of eczema to severe growth and mental retardation, microcephaly, behavioral problems, aplastic anemia, immunological disorders, neoplasms, and eczema Some features of this syndrome are similar to those in Bloom and fetal alcohol syndromes. Major Features Head and neck: Microcephaly, micrognathia, prognathism triangular face, high sloping forehead, craniosynostosis, narrow bifrontal diameter, dolichocephaly, trigonocephaly, small face and narrow face, brachycephaly, large open fontanels, prominent occiput, prominent glabella, flat occiput, and Robin sequence. Ears: Large or small ears, low-set posteriorly angulated ears, hypoplastic helices, anteverted auricles, prominent lower anthelices, folded helices, cup-shaped ears, hypoplastic tragus, and ear or pre-auricular fistulae. Otitis media is frequent. Eyes: Blepharophimosis, blepharoptosis, telecanthus, hypertelorism or hypotelorism, upslanted or downslanted palpebral fissures, epicanthus, arched eyebrows, strabismus, esotropia, microphthalmia, iris coloboma, nystagmus, anisocoria, megalocornea, iris hypoplasia, oculomotor paralysis, astigmatism, blue sclera, deep optic nerve cupping, immature retinal vessels, and tortuosity of retinal vessels.

2. Dubowitz Syndrome Support Site Links and resource information. http://www.ric.edu/uap/dsyndrome/

What is Dubowitz Syndrome Web-based papers/articles Helpful Links (advocacy, education, family) Research Government programs/assistance Our Favourite People Subscribe to dubowitz_syndrome Powered by groups.yahoo.com we are NOT responsible for the accuracy of the above translator as it tends to be very 'literal', but it's better than nothing. Email Us free website counter

3. Dubowitz Syndrome 1 dubowitz syndrome, a look at the synonyms, a summary and list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Search Jablonski's Syndromes Database dubowitz syndromedubowitz syndrome information, links to national and international support groups,clinics with genetic counselors and geneticists. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=272

5. Dubowitz Syndrome dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Dubowitz Syndrome Information Page Topic Information What is dubowitz syndrome? From the dubowitz syndrome Information Parent Support Return to Top Best Practices http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Dubowitz Syndrome Support Site dubowitz syndrome Support Homepage Link image divider line. What is DubowitzSyndrome? Webbased papers/articles Helpful Links (advocacy, education, http://www.dubowitzsyndrome.net/

8. Dubowitz Syndrome dubowitz syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Dubowitz Syndrome dubowitz syndrome is a very rare genetic and developmental disorder involvingmultiple congenital (inherited) http://my.webmd.com/hw/health_guide_atoz/nord198.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Dubowitz Syndrome Important 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.

10. DUBOWITZ SYNDROME dubowitz syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Dubowitz Syndrome Model. 1 group in Rhode Island. Founded 1997. Information, education, supportand networking for parents http://my.webmd.com/hw/health_guide_atoz/shc29dub.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Dubowitz Syndrome Information and Parent Support Dubowitz Syndrome NE Dubowitz Syndrome Support Model. 1 group in Rhode Island. Founded 1997. Information, education, support and networking for parents of children with Dubowitz syndrome, and concerned professionals. Information on assistive technology and education issues. Referrals, pen pals, advocacy, information on geneticists. WRITE: NE Dubowitz Syndrome Support c/o Sharon Terzian 106 Verndale St. Warwick, RI 02889 CALL: 401-737-3138 E-MAIL: dubowitzsyndrome@netzero.net WEBSITE: http://www.dubowitzsyndrome.net VERIFIED: 4/15/2005 Dubowitz Syndrome Information and Parent Support National network. Founded 1998.

12. Dubowitz Syndrome Support Site are other very qualified geneticists who can make a good guess of it, but currently there is no one test that determines dubowitz syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. DUBOWITZ SYNDROME: Contact A Family - For Families With Disabled Children: Infor Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/d355.html

printer friendly DUBOWITZ SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no The features associated with Dubowitz syndrome include Microcephaly , delayed development, short stature, mild learning difficulties with behaviour problems and Eczema . Individuals with Dubowitz syndrome may show some or all of these features and furthermore may be differently affected by the severity of their symptoms. Symptoms may be so mild that they elude a diagnosis of Dubowitz syndrome in these individuals. Some degree of intellectual impairment is usually present in individuals with Dubowitz syndrome. Levels range from profound learning difficulties to normal ability. Characteristic behaviour patterns include hyperactivity, shyness and stubbornness. There is anecdotal evidence of an association between Autism and Dubowitz syndrome. However, no formal psychological studies have been undertaken to confirm or refute this association. Individuals with Dubowitz syndrome have normally proportioned bodies although they may be shorter than average for their age. Babies born with a normal weight are commonly severely delayed in their growth.

14. Dubowitz Syndrome Support Site What is dubowitz syndrome? Adapted from the Online Mendelian Inheritance in Man/Johns Hopkins University http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Dubowitz Syndrome dubowitz syndrome is a very rare genetic and developmental disorder involvingmultiple congenital (inherited) anomalies including but not limited to (1) http://www.bchealthguide.org/kbase/nord/nord198.htm

var hwPrint=1;var hwDocHWID="nord198";var hwDocTitle="Dubowitz Syndrome";var hwRank="1";var hwSectionHWID="nord198-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Dubowitz Syndrome Important 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.

16. Short Description Of Cell Lines. Pathology Dubowitz Syndrome Short description of cell lines. Pathology dubowitz syndrome *223370 OMIM record http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Support Groups Dual Recovery Anonymous Mental Health (General) dubowitz syndrome dubowitz syndrome Information and Parent Support - dubowitz syndrome, Top http://www.bchealthguide.org/kbase/list/shc/d.htm

Support Groups Click a letter to see a list of topics beginning with that letter. A B C E ... DY DA DAD-to-DAD - Parenting / Grandparenting Dana Farber Cancer Institute Family Studies Cancer Risk Line - Cancer Helpline Dancing Eye Syndrome Dancing Eye Syndrome - Dancing Eye Syndrome ... Dandy-Walker Syndrome Network - Dandy Walker Syndrome DB DB-Link (National Information Clearinghouseon Children who are Deaf/Blind) - Blind Helpline DE Deaf / Hearing Impaired / Tinnitus / Meniere's Deaf Helpline Death of a Child / Fetal Loss DeBarsy Syndrome ... Depression After Delivery - Depression / Bipolar Disorder / Postpartum Depression Top Depression and Bipolar Support Alliance - Depression / Bipolar Disorder / Postpartum Depression Depression Helpline Dercum's Disease - Dercum's Disease / Adiposis Dolorosa Dercum's Disease / Adiposis Dolorosa ... Deutsch-Russischer Austausch e.V. - Clearinghouse - Germany DI Diabetes Diabetes Helpline Diabetes Insipidus Diabetes Insipidus Foundation, Inc. - Diabetes Insipidus ... Dissociative Disorder - Mental Health Consumers Top Distriktlakare - Clearinghouse - Sweden DivorceCare - Separation / Divorce DO Domestic Violence Anonymous - Spouse Abuse / Domestic Violence Domestic Violence Helpline Donated Dental Services - Dental Helpline Double Trouble in Recovery, Inc. - Alcohol Abuse

18. DUBOWITZ SYNDROME Features Listed For dubowitz syndrome McKusick 223370. Blepharophimosis/blepharospasm Delayed bone age Eczema/atopic dermatitis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Dubowitz Syndrome Support Site What is dubowitz syndrome? Adapted from the Online Mendelian Inheritance in dubowitz syndrome is a rare syndrome found in approximately less than 200 http://www.ric.edu/uap/dsyndrome/whatis.html

What is Dubowitz Syndrome? Adapted from the Online Mendelian Inheritance in Man/Johns Hopkins University Dubowitz Syndrome is a rare syndrome found in approximately less than 200 people around the world. It is currently described as an autosomal recessive inheritance, but this is currently being challenged by some on-going research. Below is a general list of characteristics that your child may or may not have, or ever have. There is a great degree of variance in each one. We are not medical people and make no claims on the information on these pages. You still should take your child to see a qualified geneticist if you suspect that he/she has this or any other genetic syndrome. Please see our page on ' our favourite people ' for someone that may be able to help you or email us and we'll try to find someone nearby. Please also keep in mind that genetics is not exact. Children inherit other characteristics from their parents that can override any of the descriptors below. Generally, the child has intrauterine growth retardation and has a low birth weight. Afterwards, the child is sometimes labeled as

20. Dubowitz Syndrome Support Site dubowitz syndrome Support Homepage Link image divider line. Research for thecause/gene of dubowitz syndrome has been sporadic at best. http://www.ric.edu/uap/dsyndrome/research.html

Research for the cause/gene of Dubowitz Syndrome has been sporadic at best. There are so few children with the syndrome, and even fewer that have been correctly identified. The current criteria for correct identification is usually from a geneticist that has seen another child with it and your child fits over 60% of the characteristics . A definitive diagnosis is someone that has seen Dr. John Opitz at the University of Utah Primary Medical Center. Dr. Opitz has more or less 'taken charge' of the syndrome here in the United States and has seen some of the children and collected blood samples from many of them for future research. Dr. Victor Dubowitz, from the Imperial School of Medicine in London, England, is the person who first 'discovered' this syndrome. He has also seen some of the children here in the United States as well as in the United Kingdom. There are other very qualified geneticists who can make a good guess of it, but currently there is no one test that determines Dubowitz Syndrome. Dr. Richard Kelley at Kennedy/Kreiger and Johns Hopkins was also doing some work, but has issues with his research people.

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