Mowat-Wilson+syndrome

Mowat-Wilson Syndrome

**Also Known As: **
 * Hirschsprung disease-mental retardation syndrome
 * Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease
 * MWS


 * 1. Who first discovered this disorder? Where, when, and under what circumstances was it discovered? **

 In 1998, Dr D. R. Mowat and Dr M. J. Wilson discovered and named the syndrome in 1998, while observing six patients who they described as having a type of mental retardation syndrome. The syndrome they observed reminded them of Hirschsprung disease. From this, they concluded that some patients who had been originally diagnosed with Hirschsprung disease actually had this new syndrome. It is common that patients can have both; more than 50% of those with MWS also have Hirschsprung disease as well. In 2001, the scientists officially dubbed it "Mowat-Wilson Syndrome".


 * 2. Symptoms/Characteristics of MWS: **
 * < Visible Symptoms: ||< Internal Symptoms/Effects  ||<   ||
 * * Square shaped face
 * Narrow triangular chin
 * Large eyes
 * Broad nasal bridge
 * Full or everted lower lip
 * Large uplifted earlobes with a central depression
 * <span style="color: #30d0b0; font-family: Georgia,serif; font-size: 140%;">Widely spaced eyes
 * <span style="color: #30d0b0; font-family: Georgia,serif; font-size: 140%;">Smiling, open mouthed expression || * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Speech absent or impaired
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Speech usually develops mid-childhood, later, or never at all
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Seizures
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Heart defects
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Majority of patients are optimistic and happy
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Delayed motor skills
 * <span style="color: #44ecc1; font-family: Georgia,serif; font-size: 140%;">Eye problems ||<  ||




 * <span style="background-color: #dcb4a7; color: #227c5e; font-family: Georgia,serif; font-size: 160%;"> At what age do symptoms begin? **

<span style="color: #227c5e; font-family: Georgia,serif; font-size: 140%;">Symptoms can begin right from birth. Children can be diagnosed as infants, due to physical features they were born with, and delayed motor milestones that show up as they age. Children with MWS are late speakers and walkers, and depend on tables and chairs to support them when they walk. It can also be diagnosed when they lack the ability to speak, or are slow to learn basic speech. If someone with MWS has speech problems, forms of simple sign language can be taught to them. The major signs however, that alert doctors right away, is a child's distinctive facial features, and if they have Hirschsprung disease, which affects your intestines. Symptoms of Hirschsprung disease are; swollen belly, vomiting, constipation, diarrhea, failure to thrive, and fatigue. It's usually diagnosed at birth or during early childhood. 90% are diagnosed as an infant. 1 in 5,000 babies are born with Hirschsprung disease, and the majority of those with MWS have it.




 * <span style="background-color: #b0849c; color: #591e71; font-family: Georgia,serif; font-size: 160%;">Are the symptoms treatable? How? **

<span style="color: #591e71; font-family: Georgia,serif; font-size: 140%;">The symptoms are treatable, but usually through difficult and varying strategies. Most treatments are specific to the patient, rather than the overall group as a whole. Families can undergo genetic counseling, and support groups are available for those with MWS and their families. Early contact with a specialist is undeniably important, particularly cardiologists and neurologists. A patient normally requires a group, rather than one person, of doctors to care for them. Children with MWS benefit from early education intervention and speech therapy. If speech doesn't develop, sign language can be taught as a way of communication. Physical therapy can also help with advancing motor skills. Surgery can be performed to get rid of or help weaken the effects of Hirschsprung disease. A healthy diet is critical for making sure the patient gets the nutrients they need.


 * <span style="background-color: #60aed2; color: #d04133; font-family: Georgia,serif; font-size: 160%;">Is the disorder fatal? **

<span style="color: #d04133; font-family: Georgia,serif; font-size: 140%;">Because of the heart defects, seizures, and difficulty with motor and communication skills, the life expectancy for those with MWS is 15-25 years old. The person to have lived with MWS the longest died at age 30. Only a few cases of patients dying as young children have been recorded.




 * <span style="background-color: #64e378; color: #782ca4; font-family: Georgia,serif; font-size: 160%;">3. What is the inheritance pattern of the disorder? **

<span style="color: #782ca4; font-family: Georgia,serif; font-size: 140%;">MWS has an autosomal dominant pattern; even if you only inherit the disease from one parent, you can have the disease. It's usually not inherited from a parent cell. The mutation occurs when the sex cells are being formed.
 * <span style="background-color: #cfcbd1; color: #45469a; font-family: Georgia,serif; font-size: 160%;">4. Are there any environmental factors that can affect the symptoms? **

<span style="color: #387745; font-family: Georgia,serif; font-size: 140%;">Seizures, a symptom of MWS, can be caused by environmental factors, such as:
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">High fever, which can be associated with an infection such as meningitis
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Lack of sleep
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Low blood sodium
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Medications, such as certain pain relievers, antidepressants or smoking
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Head trauma
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Strokes
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Brain tumors
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Illegal or recreational drugs
 * <span style="color: #e985a6; font-family: Georgia,serif; font-size: 140%;">Alcohol abuse

<span style="color: #387745; font-family: Georgia,serif; font-size: 140%;">Without proper care, patients can also have difficulty walking, which without a cane or wheelchair can weaken their legs. Without help with speech, patients may not be able to speak at all. Intervention is key, to keep the patient steady, but otherwise the symptoms are not affected by other environmental factors.




 * <span style="background-color: #e4f584; color: #b91c28; font-family: Georgia,serif; font-size: 160%;">5. How common is the disorder? **

<span style="color: #751a98; font-family: Georgia,serif; font-size: 140%;">Scientists assume that MWS is "under-diagnosed" in the world today. It's estimated to happen in 1 of 50,000 to 100,000 births. Since 1998, when the syndrome was discovered and named, roughly 171 people have been diagnosed. These patients have been for the most part from Northern Europe, Australia, Italy, and the United States. There is a 2% chance that more than one person in a family have Mowat-Wilson Syndrome. All ethnic groups can be prone to having the syndrome- the places where it is mainly found are where there are more resources to diagnose it. Both males and females can have Mowat-Wilson syndrome, though it's been seen as being slightly more common in males. The picture below features statistics on what symptoms people with MWS have.


 * <span style="background-color: #b1ed63; color: #2884be; font-family: Georgia,serif; font-size: 160%;">6. What tests are done to confirm a diagnosis of Mowat-Wilson Syndrome? **

<span style="color: #9b6a5a; font-family: Georgia,serif; font-size: 140%;">To confirm a diagnosis of Mowat-Wilson Syndrome, several things can be done. There's testing for the sequence of analysis of select exons, detection of homozygosity, targeted variant analysis, deletion/duplication analysis, and sequence of the entire coding region. Molecular genetic tests such as these are the best ways to tell if a patient has MWS, as it can be hard to rely on physical symptoms alone. These tests can determine how a gene is expressed as a protein, and give a genetic picture of the biological markers on the genome and proteome. Doctors also look at the patient's medical history; including whether or not they have Hirschsprung disease.

<span style="color: #9b6a5a; font-family: Georgia,serif; font-size: 130%;">


 * <span style="background-color: #f59c9c; color: #17656c; font-family: Georgia,serif; font-size: 160%;">7. Which chromosome is responsible for this disorder? Is it caused by gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type? **

<span style="color: #d77987; font-family: Georgia,serif; font-size: 140%;">MWS is caused by a mutated ZEB2 gene. The ZEB2 gene codes for the ZEB2 protein, which is necessary for early development, especially as an infant, and helping signal pathways that are mandatory for proper function. It also keeps particular genes bound together, and helps control what those genes are supposed to do. The majority of people with MWS have it because of an entire or partial deletion of the ZEB2 gene. When there's not enough of the ZEB2 protein, the normal development of the body is disrupted, and that's what causes the symptoms of MWS. The proteins that are supposed to help your body grow the way it's supposed to can't.




 * <span style="background-color: #cdf084; color: #9f4399; font-family: Comic Sans MS,cursive; font-size: 160%;">Wicked Cool Person Living With Mowat-Wilson Syndrome: **

<span style="color: #b60b6d; font-family: Comic Sans MS,cursive; font-size: 150%;">Mikella Ferreira


<span style="color: #239016; font-family: Comic Sans MS,cursive; font-size: 140%;">Born: July 8th, 2003 ===<span style="color: #7584c3; font-family: Comic Sans MS,cursive; font-size: 130%;">Mikella Ferreira has had several surgeries done when she was a baby for her Hirschsprung's disease, and has had two severe seizures, but she's making advances that are making a new path for others with MWS like her. Her family is using a variety of tactics, including; vitamins, amino acid nutrition, Omega 3 oils, and having a one-on-one therapist intervene early on in her life. She lives with her family and goes to school in South Africa. ===

<span style="color: #9a6ba4; font-family: Comic Sans MS,cursive; font-size: 130%;">Her family has a website devoted to her progress: <span style="color: #9a6ba4; font-family: Comic Sans MS,cursive; font-size: 130%;">https://sites.google.com/site/mikellamws/Home


 * Thank you for reading!**


 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">Works Cited: **


 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://rarediseases.org/rare-diseases/mowat-wilson-syndrome/
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://sites.google.com/site/mikellamws/Home
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://www.mayoclinic.org/diseases-conditions/hirschsprung's-disease/symptoms-causes/syc-20351556
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">http://www.mowatwilsonsyndrome.org.uk/mowat-wilson-syndrome.htm
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://mowat-wilson.org/living-with-mws/mws-genetics/
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://www.thinkgenetic.com/diseases/mowat-wilson-syndrome-8510/treatment/60163
 * <span style="font-family: Times New Roman,Times,serif; font-size: 140%;">https://www.omim.org/entry/605802