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
Extractions: 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.
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
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
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
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
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/
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
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
Extractions: 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.
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
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
Extractions: 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.
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
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
Extractions: 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. 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.
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
Extractions: 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
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
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
Extractions: 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.
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
Extractions: 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.
