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]]