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 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/
Extractions: 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.
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 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
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
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
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
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
Extractions: 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
Pediatric Database A definition of dubowitz syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/DUBOWITZ.HTM
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
Extractions: 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
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
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
NE Dubowitz Syndrome Support Information, education,support and networking for parents of children with DubowitzTitle NE dubowitz syndrome Support. http://www.medhelp.org/amshc/amshc333.htm
Extractions: 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
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
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 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. Information on the following diseases can be found in the Related Disorders section of 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.
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
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
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
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.
Genetic Disorders, Dubowitz Syndrome Submit Your Site to the dubowitz syndrome category. Sponsored dubowitz syndromeSites. Submit Your Site to the dubowitz syndrome category. Sponsored Results. http://www.iseekhealth.com/dubowitz_syndrome-1580.php
