Mowat-Wilson syndrome 5821650 221739172 2008-06-25T21:42:10Z Stevenfruitsmaak 247845 original pics {{Infobox_Disease | Name = {{PAGENAME}} | Image = Mowat-Wilson-2.JPEG| Caption = Mowat-Wilson Syndrome, clinical features of Patient 2 at age: (A) 1 year and 6 months; (B-C) 3 years and 5 months; (D-E) 8 years and 1 month.| DiseasesDB = 32975 | ICD10 = | ICD9 = | ICDO = | OMIM = 235730 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | }} '''Mowat Wilson syndrome''' is a rare [[genetic disorder]] that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.<ref>{{cite web |url=http://jmg.bmjjournals.com/cgi/content/abstract/35/8/617 |title=Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 -- Mowat et al. 35 (8): 617 -- Journal of Medical Genetics |accessdate=2007-08-23 |format= |work=}}</ref> ==Presentation== [[Image:Mowat-Wilson.JPEG|thumb|left|Mowat-Wilson Syndrome, clinical features of Patient 1 at age: (A) 1 year and 6 months; (B-C) 5 years; (D-E) 13 years and 8 months; (F-G) 18 years.]] The disorder is characterized by a number of health defects including [[Hirschsprung's disease]], [[mental retardation]], [[seizure disorder]], delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the [[corpus callosum]]. Distinctive physical features include [[microcephaly]], narrow chin, cupped ears with protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened [[philtrum]]. ==Causes== The disorder is an [[autosomal dominant]] disorder resulting from new [[mutation]]s or deletions of the [[ZFHX1B]] (SMADIP1) [[gene]] on [[chromosome]] 2q22. However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable. ==Prognosis== There is no cure for this syndrome. Treatment is supportive and symptomatic. ==References== <references/> == External links == *[http://www.mowatwilson.org/Biography%20Files/MOWAT-WILSON%20SYNDROME%2012-05.pdf Centre for Genetics Education in Sydney, Australia (PDF Information Sheet)] *[http://jmg.bmjjournals.com/cgi/content/full/41/2/e16 Journal of Medical Genetics Vol 41, e16] *[http://jmg.bmjjournals.com/cgi/content/abstract/40/5/305 Journal of Medical Genetics Vol 40, 305-10] *[http://jmg.bmjjournals.com/cgi/content/abstract/35/8/617 Journal of Medical Genetics Vol 35, 617-23] *[http://www.mowatwilson.org extensive links page] [[category:genetic disorders]] [[category:syndromes]] [[category:rare diseases]] [[es:Síndrome de Mowat-Wilson]] [[fr:Syndrome de Mowat-Wilson]] [[pl:Zespół Mowata-Wilsona]]