![]() ![]() A small subset of individuals will have electrical status epilepticus during sleep (ESES) that can lead to loss of some developmental and physical skills if it continues untreated.Īlthough a variety of congenital abnormalities may occur in infants with MWS, it is important to note that affected infants will not have all of the anomalies associated with the condition. Seizures can be difficult to control in childhood but are not usually a major problem in adulthood. Seizures are common, occurring in approximately 90% of individuals by 10 years of age. They usually have a happy demeanor and smile frequently. ![]() Comprehension is usually better than speech ability and children may communicate in non-verbal ways such as signing or use of a communication device. Speech is often delayed or absent, with few exceptions (see mild Mowat-Wilson syndrome). Some facial features become more apparent with time, so a diagnosis of MWS is easier to make in older children.Ĭhildren with MWS make their developmental progress (such as sitting, crawling, and walking) at a significantly slower rate than average. These features may not all be obvious in babies. Common features include a high forehead, broad eyebrows that are wide apart centrally, widely spaced eyes (hypertelorism) that are large and deep set, uplifted ear lobes with a central depression, relatively small nose (in babies) with a prominent rounded nasal tip, prominent portion between nostrils (columella), open mouth with M-shaped upper lip, and a prominent but narrow and triangular pointed chin. The distinctive facial appearance of people with MWS is the most consistent feature of this condition, and can be recognized by an experienced medical specialist. Constipation in people with MWS needs investigation in view of the possibility of very short segment HSCR. Chronic constipation may occur even in those who do not have Hirschsprung disease. MWS specific growth charts now are available to track growth. Later features may include small head size (microcephaly) and short stature. These include the intestinal disorder Hirschsprung disease in about half, problems with development of the kidneys and male genitalia (hypospadias), congenital heart defects, eye problems and absence of the area of the brain which connects the two cerebral hemispheres (agenesis of the corpus callosum). Some physical problems may present at birth or infancy. People who have MWS typically have a distinctive facial appearance, absent or severely limited speech, and often have seizures. Most people with MWS have a severe intellectual disability, though a small number have milder features and only moderate intellectual disability. MWS is associated with a range of physical symptoms as well as intellectual disability. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies. ![]()
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