Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Genetics in medicine open·2026
Same author

Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.

Fetal and pediatric pathology·2026
Same author

International clinical evidence-based guideline for Kleefstra syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

American journal of human genetics·2026
Same author

Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Journal of clinical medicine·2026
Same author

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Clinical genetics·2026

Related Experiment Video

Updated: Jul 10, 2026

Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures
03:07

Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures

Published on: July 12, 2024

Mowat-Wilson syndrome.

Livia Garavelli1, Paola Cerruti Mainardi

  • 1Clinical Genetics Unit, Obstetric and Pediatric Department, S, Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it

Orphanet Journal of Rare Diseases
|October 26, 2007
PubMed
Summary

Mowat-Wilson syndrome (MWS) is a genetic disorder caused by ZEB2 gene mutations, characterized by distinct facial features, intellectual disability, and congenital anomalies. Early diagnosis and multidisciplinary intervention are crucial for managing MWS patients.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Mowat-Wilson syndrome (MWS) is a rare multiple congenital anomaly syndrome.
  • It presents with a characteristic facial phenotype, intellectual deficiency, epilepsy, and variable congenital malformations.
  • MWS is caused by heterozygous mutations or deletions in the ZEB2 gene.

Purpose of the Study:

  • To describe the clinical features and genetic basis of Mowat-Wilson syndrome.
  • To highlight the importance of facial phenotype in diagnosis.
  • To emphasize the need for early intervention and multidisciplinary care.

Main Methods:

  • Review of reported MWS cases and genotype-phenotype analysis.
  • Genetic analysis of ZEB2 gene mutations and deletions.

Related Experiment Videos

Last Updated: Jul 10, 2026

Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures
03:07

Modification of the Treatment Methods for Wasting Marmoset Syndrome with Tranexamic Acid and Supportive Measures

Published on: July 12, 2024

  • Clinical assessment of patient phenotypes, including facial features and congenital anomalies.

    • Main Results:

    • Facial gestalt and delayed psychomotor development are constant features of MWS.
    • Congenital malformations such as Hirschsprung disease, genitourinary anomalies, and heart defects are variable.
    • ZEB2 haploinsufficiency is the primary pathological mechanism, with truncating mutations and whole gene deletions being common.

    Conclusions:

    • The distinct facial phenotype is a key diagnostic hallmark for MWS, guiding ZEB2 mutational analysis.
    • MWS is likely under-diagnosed, especially in patients without Hirschsprung disease.
    • Early and comprehensive multidisciplinary management, including rehabilitation, is essential for improving outcomes in MWS patients.