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         Dubowitz Syndrome:     more detail
  1. Dubowitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

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 Information And Parent Support
. What is dubowitz syndrome? . . If your child has been diagnosed with DubowitzSyndrome, please subscribe and join us. How to subscribe. News Announcements.
http://www.dubowitz.org/

Information
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    A n overview . . . What is Dubowitz Syndrome? . . . history, diagnosis, clinical features,
    medical complications, bibliography
      Dubowitz Family E-mail Discussion Group
      Support for families is provided through our online E-mail Listserv.
      If your child has been diagnosed with Dubowitz Syndrome, please subscribe and join us. How to subscribe
    Dubowitz Day, Part Two took place August 6, 1999 in Salt Lake City, Utah. The clinic day, held in the Research Center at the University of Utah Hospital, included individual consultations for each attending family with Dr. John Opitz and Dr. Giovanni Neri. In addition, two group conferences (including question/answer sessions) were held for all attendees. The day concluded with a dinner sponsored by the University of Utah Dept. of Genetics. The clinic day was arranged and organized by Alexis Poss, Genetics Couselor. Report Transcript of newspaper article featuring one of our children, published in the Tulsa World, January 6, 1999

3. DUBOWITZ SYNDROME: Contact A Family - For Families With Disabled Children: Infor
printer friendly, dubowitz syndrome, Symptoms may be so mild that theyelude a diagnosis of dubowitz syndrome in these individuals.
http://www.cafamily.org.uk/Direct/d355.html
printer friendly DUBOWITZ SYNDROME home more about us in your area conditions information ... how you can help search this site 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.

4. DUBOWITZ SYNDROME
Features Listed For dubowitz syndrome. McKusick 223370. Blepharophimosis/blepharospasm. Delayed bone age. Eczema/atopic dermatitis. Hypertelorism. Microcephaly. Ptosis of eyelids. Short palpebral fissures. Stature/length short, prenatal onset
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?488

5. NORD - National Organization For Rare Disorders, Inc.
Copyright 1986, 1987, 1990, 1994, 2003. Synonyms of dubowitz syndrome. Intrauterine Dwarfism General Discussion. dubowitz syndrome is a very rare genetic and developmental disorder
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dubowitz Synd

6. Health Information Hospital Search
The synonyms of this disorder with a general discussion and further resources.
http://www.laurushealth.com/library/healthguide/IllnessConditions/_showTopic.asp

7. What Is Dubowitz Syndrome?
What is dubowitz syndrome? Originally believed to be very rare, it is now thoughtthat dubowitz syndrome may not be as rare as it is underdiagnosed.
http://www.dubowitz.org/article.html

Home
Information Message Board Listserv ... Links What is Dubowitz Syndrome?
    D ubowitz syndrome is a malformation syndrome defined by prenatal and postnatal growth retardation, microcephaly, and a characteristic facial appearance. First described in 1965 by Dr. Victor Dubowitz, the condition was further defined by Dr. John Opitz who proposed the designation Dubowitz syndrome It is present at birth and is thought to be caused by a single defective gene. Neither the location of the gene nor the pathogenesis by which the diverse manifestations are produced are yet known. The condition is not caused by anything the parents did or did not do. It is present in the fetus from the beginning of that individual's development. Originally believed to be very rare, it is now thought that Dubowitz syndrome may not be as rare as it is under-diagnosed. As awareness of the syndrome increases, affected individuals are being diagnosed in greater numbers. It is our hope that this material will help to promote public awareness of the syndrome and provide families and others with easily accessible information in layman's terms.
Table of Contents

8. Dubowitz Syndrome
dubowitz syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists dubowitz syndrome. dubowitz syndrome Support. c/o 106 Verndale
http://www.kumc.edu/gec/support/dubowitz.html
Dubowitz syndrome
Dubowitz Syndrome Support c/o 106 Verndale St., Warwick, RI 02889 Phone: 401.737.3138 E-mail: flamingo@ids.net Dubowitz Syndrome Information and Parent Support Family site Web site: www.dubowitz.org
E-mail : bobbie@dubowitz.org or kim@dubowitz.org Also See:
To locate a genetic counselor or clinical geneticist in your area: Revised August 5, 2003
Genetic Societies
Clinical Resources Labs Clinics ... Search
Genetics Education Center
Debra Collins, M.S. CGC
, Genetic Counselor, dcollins@kumc.edu
This site subscribes to the principles of the HONcode
(Health on the Net, Code of Conduct for Medical and Health Web Sites)
of the Health On the Net Foundation

9. Pediatric Database
A definition of dubowitz syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.
http://www.icondata.com/health/pedbase/files/DUBOWITZ.HTM

10. Dubowitz Syndrome - First Descriptions
Extensive information about the syndrome, along with parent support and networking. What Is dubowitz syndrome? ( Part 2) that the condition was a distinct and unique genetic syndrome, and proposed the designation of dubowitz syndrome
http://www.dubowitz.org/first.html
Home Information Message Board Listserv ... NEXT - Diagnosis, defining manifestations What Is Dubowitz Syndrome? (Part 2)
    First descriptions . . . In 1965, Dr. Victor Dubowitz of the University of Sheffield, England published a paper [31] describing a young girl with pre- and postnatal growth retardation, microcephaly, unusual facial features, and a history of eczema occurring on her face and insides of her knees and elbows. Dr. Dubowitz noted that an older female sibling of the child, who had exhibited a similar facial appearance, had died at 3 months of age. The sister's birth weight had been only 4 lb., and although she had shown no eczema, she did have some webbing between her toes. Based on the similar features of the two siblings, Dr. Dubowitz suggested their condition may represent a distinct and recognizable autosomal recessive syndrome. He went on to compare his patient to a number of other patients described in previous literature, and questioned whether the new condition might represent a variation of a previously described syndrome. In 1971, Dr. John Opitz and Dr. Frank Gross of the University of Wisconsin Medical School, in collaboration with Dr. Robert Gorlin of the University of Minnesota School of Dentistry, published a paper [53] elaborating on the condition described by Dr. Dubowitz through the presentation of three additional patients. Following intensive study, Dr. Opitz concluded that the condition was a distinct and unique genetic syndrome, and proposed the designation of

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

12. KinderStart - Health/Medical/Dental : Major Diseases/Conditions : Dubowitz Syndr
English Behavioral and Cognitive Features of dubowitz syndrome Childrenwith dubowitz syndrome are shy, loving, unassuming, and kind.
http://www.kinderstart.com/healthmedicaldental/majordiseasesconditions/dubowitzs
KinderStart Alta Vista Ask Jeeves Excite Google HotBot GO LookSmart Lycos Webcrawler Adoption Animal Friends Bringing Home Baby Child Development ... Major Diseases/Conditions : Dubowitz Syndrome
Web Pages

The following links are in English

13. Dubowitz Syndrome Articles, Support Groups, And Resources
dubowitz syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). dubowitz syndrome.
http://www.medhelp.org/HealthTopics/Dubowitz_Syndrome.html
[Health Topics A-Z]
A
B C D ... Z
Dubowitz Syndrome

[Med Help Home]
[Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

14. NE Dubowitz Syndrome Support
Information, education,support and networking for parents of children with Dubowitz......Title NE dubowitz syndrome Support.
http://www.medhelp.org/amshc/amshc333.htm
Title: NE Dubowitz Syndrome Support Description: Information, education, support and networking for parents of children with Dubowitz syndrome, and concerned professionals. Information on assistive technology. Information and referrals, pen pals, advocacy, information on geneticists and other professionals. Scope: Model Number Groups: 1 group in Rhode Island Founded: Address: c/o Sharon Terzian
106 Verndale St.
Warwick, Rhode Island, 02889
United States Telephone: Email: flamingo@ids.net This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to admin@selfhelpgroups.org
Updated: 05/2004

15. Karger Publishers
Editorial Board. Guidelines. Issues. Advertising. Subscriptions. Free ToC Alert. Original Paper. Craniocervical Anomalies in dubowitz syndrome. Three Cases and a Literature Review. Karin R. Swartza
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&Produk

16. 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
document.write(''); var hwPrint=1; var hwDocHWID="nord198"; var hwDocTitle="Dubowitz Syndrome"; var hwRank="1"; var hwSectionHWID="nord198"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Dubowitz Syndrome
Important
It is possible that the main title of the report 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
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Bloom Syndrome Seckel Syndrome Fetal Alcohol Syndrome (FAS) Ectodermal Dysplasias
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.

17. Dubowitz Syndrome
Founded 1997. Information, education, support and networking for parents of childrenwith dubowitz syndrome, and concerned professionals. dubowitz syndrome.
http://www.bchealthguide.org/kbase/shc/shc29dub.htm
document.write(''); var hwPrint=1; var hwDocHWID="shc29dub"; var hwDocTitle="Dubowitz Syndrome"; var hwRank="1"; var hwSectionHWID="shc29dub"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC";
Self Help Clearinghouse
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 andeducation 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: flamingo@ids.net
VERIFIED: 5/1/2003
Dubowitz Syndrome Information and Parent Support
National network. Founded 1998.
Provides support, understanding and information to families affected by Dubowitz syndrome, a rare, genetic disorder defined by growth retardation, microcephaly, and a characteristic facial appearance. Literature, information and referrals, telephone support network, pen pal program. Family listserv. CALL: 309-665-0041 E-MAIL: kim@dubowitz.org

18. Dubowitz Syndrome
dubowitz syndrome NE dubowitz syndrome Support Model. 1 group in Rhode Island. WRITENE dubowitz syndrome Support c/o Sharon Terzian 106 Verndale St.
http://my.webmd.com/hw/health_guide_atoz/shc29dub.asp
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You are in Medical Library Choose a Topic 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 andeducation 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: flamingo@ids.net VERIFIED: 5/1/2003 Dubowitz Syndrome Information and Parent Support National network. Founded 1998.

19. Dubowitz Syndrome
dubowitz syndrome Important It is possible that the main title of thereport dubowitz syndrome is not the name you expected. Please
http://my.webmd.com/hw/health_guide_atoz/nord198.asp
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You are in Medical Library Choose a Topic 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.

20. Genetic Disorders, Dubowitz Syndrome
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