Mowat-Wilson Syndrome Growth Charts

October 27, 2020/in Frontpage Article, News, Research /by 4Foundation

Mowat-Wilson Syndrome Growth Charts

Male & Female | Height | Weight | BMI | Head Circumference

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.

Download Charts

Survey: Calling All MWS Caregivers!

March 21, 2019/in Frontpage Article, News, Research /by 4Foundation

Caregiver Survey: Mowat-Wilson Syndrome

The Mowat-Wilson Syndrome Foundation has partnered with suAzio to conduct a survey of Mowat-Wilson Syndrome caregivers like yourself. The survey has been developed in close collaboration with the MWSF to ensure the resulting survey feedback will assist the Foundation to better serve the MWS community. Read more

Research Article: Phenotype and Genotype of 87 Patients with MWS and Recommendations for Care

February 5, 2018/in Frontpage Article, News, Research, Research Reports /by 4Foundation

This study , published by the American College of Medical Genetics and Genomics, analyses clinical data for 87 patients with a molecularly confirmed diagnosis of MWS, including 62 previously reported patients and 25 unpublished cases, and compared them with patients previously reported by other authors. The data was obtained through collaborations involving clinicians from various countries. Such primary data have never been collated from a large cohort of affected individuals. In this article we present a comprehensive study of MWS features underlining a highly consistent phenotype for the disease, its genotype–phenotype correlations, and the phenotypic and clinical evolution taking place with age. The purpose of the article is to assist clinicians to identify the disease and to provide them with updated care recommendations for patient management.

Full article

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Mowat-Wilson Syndrome Patient Registry One Year Anniversary

November 6, 2017/in Frontpage Article, News, Registry /by 4Foundation

Mowat-Wilson Syndrome Patient Registry Update – February 2017

February 11, 2017/in News, Registry /by 4Foundation

The Mowat-Wilson Syndrome Foundation is pleased to report on the significant progress being made with the Mowat-Wilson Syndrome Patient Registry. The registry was launched back in November, 2016. Here is what Dr. Margaret Adam said at the time.

“As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition. Therefore, to further our knowledge of the breadth of the condition requires engagement of the involved community and a platform in which information can be securely and accurately entered and curated. This in turn will allow expert clinical researchers to extract important information and identify rare complications that will aid physicians who care for individuals with MWS.”

A recap of the participation data through January 31, 2017 shows:

64 Registrations
50 Background surveys completed and 6 in progress
47 Maternal Information surveys completed
24 Genetic Information surveys completed and 20 in progress
Information shared from individuals in 11 different countries

The MWS Foundation wants to extend a big “thank you” to those who have gotten involved in the process of sharing their data. We also want to ask that if you have started the process but have not completed any of the first 3 surveys to please do so. Our plan is to begin adding additional, condition specific, surveys with the next few months. The first 2 of those additional surveys will be for Gastrointestinal issues and seizures.

We encourage you to start the process by reading the Registry FAQs. If you are ready to start sharing your data, click here.

If you have not yet begun the process, we ask that you please consider getting involved by sharing your data…Because we don’t know what’s possible.

Contact Information:

Al Triunfo
Director, Mowat-Wilson Syndrome Foundation
Email: atriunfo@mowat-winson.org
(678) 357-5523

The MWS Study – Behavior Survey Results

September 27, 2016/in Research, Research Reports /by 4Foundation

Responses collected between November 26, 2007 and May 28, 2012.

Here are the results of the Behavior Survey for individuals with MWS.

Disclaimer – The information compiled below is by no means a scientific study but an informal survey. It is information compiled from the responses supplied to us from a survey of the members or our MWS Email Support Group. Keep in mind that the range of ages of the people that the answers apply to is from infants to adults. Many of the answers may change as children grow and mature.

It was created to give those newly diagnosed with MWS a means to get some idea of what others have experienced in the same situation.


Total Number of Respondents to the Survey. - 58	Responses	#	Responses	#	Responses	#	Responses	#
Has your child had a formal IQ or developmental assessment?	Yes	41	No	17
If yes, what level of intellectual disability does you child have?	Mild	1	Mod.	8	Severe	27	Profound	6
Can your child sit up on their own?	Yes	50	No	2	A/I*	6
If yes, at what age were they able to do so?	See Question #1 Below
Does your child walk?	Yes	36	No	12	A/I*	10
If yes, do they walk with an unusual gait?	Yes	36	No	1	A/I*	11	N/A	10
If no, do they walk?	Assisted	7	Walker	2	P/D**	4
At what age did they cruise?	See Question #2 Below
At what age did they begin to walk independently?	See Question #3 Below
Does your child speak?	Yes	19	No	36	A/I*	3
If yes, how many words? (apx.)	12 or less	13	12to40	2	40 or >	4	Non Verbal	36
If yes, at what age did they begin to speak?	See Question #4 Below
If no, do they use any other means of communication and what form?	Pecs	7	Sign	4	Pointing	2	Other	22
	Comb. of All	10	A/I*	9
Have you attempted toilet training?	Yes	26	No	22	A/I*	4	S/R***	6
If yes, what results have you had?	None	31	Timed	12	Fully	4	S/R***	7
Does your child have regular bowel movements?	Yes	26	No	19	A/I*	1	S/R***	12
Does your child feed themselves independently?	Yes	7	No	25	Assisted	24	A/I*	4
Does your child dress themselves?	Yes	1	No	45	Assisted	9	A/I*	3
Does your child sleep through the night?	Yes	36	No	22	A/I*	0
Tends to be shy.	Not Typical	44	Somewhat	12	Very Typical	2
Cries easily	Not Typical	13	Somewhat	9	Very Typical	4
Likes to be with other people	Not Typical	1	Somewhat	15	Very Typical	42
Is always on the go	Not Typical	12	Somewhat	14	Very Typical	32
Prefers playing with others rather than alone	Not Typical	24	Somewhat	22	Very Typical	12
Tends to be a loner	Not Typical	39	Somewhat	16	Very Typical	3
Makes friends easily	Not Typical	20	Somewhat	19	Very Typical	31
Is off and running as soon as they awake in the morning	Not Typical	19	Somewhat	9	Very Typical	44
Is very sociable	Not Typical	5	Somewhat	10	Very Typical	33
Is very energetic	Not Typical	10	Somewhat	15	Very Typical	6
Takes a long time to warm to strangers	Not Typical	39	Somewhat	13	Very Typical	23
Is very friendly with strangers	Not Typical	12	Somewhat	23	Very Typical	0
Is somewhat of a loner	Not Typical	41	Somewhat	17	Very Typical	8
Gets upset easily	Not Typical	36	Somewhat	14	Very Typical	19
Reacts intensely when upset	Not Typical	25	Somewhat	14	Very Typical	13
Hits or bites their self.	Never	22	Sometimes	23	Often	21
Impulsive, acts before thinking	Not Typical	23	Somewhat	14	Very Typical	17
Noisy and boisterous	Never	12	Sometimes	28	Often	40
Poor sense of danger	Not Typical	11	Somewhat	7	Very Typical	29
Repeated movements of hands, body, head, hand flapping or rocking	Never	6	Sometimes	23	Often	9
Resists being cuddled, touched or held	Not Typical	25	Somewhat	24	Very Typical	7
Screams a lot	Never	31	Sometimes	20	Often	12
Avoids eye contact	Not Typical	27	Somewhat	19	Very Typical	6
Bangs head	Never	27	Sometimes	25	Often	11
Bites or pinches others	Never	30	Sometimes	17	Often	42
Chews or mouths objects	Never	2	Sometimes	14	Often	15
Fussy eater	Not Typical	30	Somewhat	13	Very Typical	23
Grinds teeth	Never	13	Sometimes	22	Often	10
Sleeps too little	Not Typical	34	Somewhat	14	Very Typical	9
Sleeps too much	Not Typical	46	Somewhat	3	Very Typical
A/I=Age Inappropriate - Physical Disability - S/R**=Does not apply due to Ostomy etc.

This survey is the sole property of the owners of www.mowatwilson.org © Any reproduction or reuse of the survey without the prior written consent of the owners of this website is expressly forbidden unless for personal private use.


Question #1	6-12mo	10	13-18mo	21	19-24mo	12	25-30mo	5	31-36mo	2	37-42mo	1	43-48mo	0	>48mo	0	A/I*	6
Question #2	6-12mo	1	13-18mo	3	19-24mo	7	25-30mo	11	31-36mo	11	37-42mo	3	>42mo	7	A/I*	10	N/A	5
Question #3	24-30mo	7	31-36mo	4	37-42mo	6	43-48mo	9	49-56mo	3	57-62mo	1	>62mo	6	A/I*	12	N/A	8
Question #4	36-42mo	9	43-48mo	2	49-56mo	7	57-62mo	0	63-68mo	0	69-74mo	0	>75mo	2	A/I*	7	N/V	33

Mowat-Wilson Syndrome Associated Conditions
Listed Below is a Condensed Version of Our Associated Conditions Survey.


Number of respondents to survey 76					Percentage
Childs Gender	M	41	F	35	55% M
Clinical or Genetic Diagnosis?	C	15	G	61	80% G
Was your child diagnosed with Hirschsprung's?	Y	43	N	31	57% Y
Was your child diagnosed with any heart condition?	Y	53	N	22	70% Y
Was your child diagnosed with Agenesis of the Corpus Callosum, ACC?	Y	41	N	33	54% Y
Was your child diagnosed with Pyloric Stenosis?	Y	14	N	60	18% Y
Was your child born with Hypospadias? (males only)	Y	25	N	17	60% Y
Does your child have any kidney disorder?	Y	16	N	58	21% Y
Does you child have seizures?	Y	60	N	16	79% Y

This survey is the sole property of the owners of www.mowatwilson.org ©
Any reproduction or reuse of the survey without the prior written consent of the owners of this website is expressly forbidden unless for personal private use.

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