This condition is inherited via autosomal recessive manner
Specialty
Medical genetics
Symptoms
Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci[1]
Diagnostic method
<rarediseases.org>The diagnosis is usually based upon clinical determination made by a geneticist (dysmorphologist) or physician.
Treatment
Due to this rare syndrome and no known cures or treatments take into consideration that these people may develop slower than others and may need more specialized attention and personal care. One on one care may be appropriate in some cases to best fit their personal needs.
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds.[2] The pathogenesis of the disease is yet to be identified, and no medical tests can definitively diagnose the disease.[3] The primary method of diagnosis is to identify facial phenotypes. Since it was first described in 1965 by English physician Victor Dubowitz, over 140 cases have been reported worldwide. Although the majority of cases have been reported from the United States, Germany, and Russia, the disorder appears to affect both genders and all ethnicities equally.[2]
^"Dubowitz syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-10-20. Retrieved 2017-07-11.
^ ab"Dubowitz syndrome". Encyclopedia of Genetic Disorders. Archived from the original on 2007-04-18.
^"Dubowitz Syndrome Support Network". Archived from the original on 2008-05-09. Retrieved 2007-04-30.
Dubowitzsyndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other...
Hospital in Hampstead. Two medical conditions are named after him, Dubowitzsyndrome, a rare genetic disorder characterized by microcephaly, growth retardation...
Democracies Victor Dubowitz (born 1931), English neurologist Dubowitz Score, a method for estimating the gestational age of babies Dubowitzsyndrome, a rare genetic...
dystrophy. Very rarely used Dubowitz disease (not to be confused with Dubowitzsyndrome) is named after Victor Dubowitz, an English neurologist who authored...
Angelman first describes Angelman syndrome. English neurologist Victor Dubowitz first describes Dubowitzsyndrome. Frank Pantridge installs the first...
Mutations in this gene have been found associated to cases of Dubowitz-like syndrome. GRCh38: Ensembl release 89: ENSG00000037474 – Ensembl, May 2017...
41 (8): 1003–14. doi:10.1111/1469-7610.00688. PMID 11099117. Black MM, Dubowitz H, Krishnakumar A, Starr RH (July 2007). "Early intervention and recovery...
published an academic paper describing a phenomenon dubbed Munchausen Syndrome by Proxy (MSbP). In 1980 he was awarded a professorial chair in paediatrics...
E, Crolla JA, Dubowitz V, Bobrow M (1986). "A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome". Am. J. Med. Genet...
kidney diseases., and for research into childhood Nephrotic syndrome and Hemolytic-uremic syndrome. Barratt's father owned and ran a law firm, and his mother...
research into the etiology of intellectual disability, especially Down syndrome. He did intensive research on the latter, communicating the results of...
of abetalipoproteinaemia. Wolff was also co-discoverer of the Edwards syndrome in abnormal chromosomes. Wolff was born the younger of two boys. Wolff's...
noncompliant with the JCPOA yet escapes reimposition of sanctions. But Mark Dubowitz of the Foundation for Defense of Democracies (which opposes the agreement)...
Parish and A.F. Wells he put forward an explanation of sudden infant death syndrome (SIDS) as an anaphylactic reaction to dairy proteins. Coombs was awarded...
Swiss scientist, pediatric endocrinologist, who discovered Prader–Willi syndrome. In 2015, Dunger was awarded the James Spence Medal. Dunger co-wrote these...
Gairdner's research interests included Schōnlein-Henoch purpura, nephrotic syndrome, circumcision, and the formation of red blood cells in infancy. He made...
28 February 2017. Retrieved 30 April 2018. "Emeritus Professor Victor Dubowitz". The Royal College of Paediatrics and Child Health. The Royal College...
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