Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects multiple parts of the body. The primary symptoms of MWS include:

• Distinctive facial features: Individuals with MWS often have a distinct facial phenotype, which may include widely spaced eyes, broad eyebrows with a medial flare, and other characteristic facial features.
• Intellectual disability: MWS is characterized by severe intellectual impairment, ranging from mild to profound.
• Seizures: Seizure disorders are common in individuals with MWS.
• Hirschsprung disease: This intestinal disorder can cause chronic constipation or bowel obstruction.
• Microcephaly: Some individuals with MWS may have a smaller-than-average head size (microcephaly).
• Heart defects: Congenital heart defects are also associated with MWS.

Overall, Mowat-Wilson syndrome is a complex condition that affects various aspects of an individual's development and health. [1][2][3][4][5][6][7][8]

Distinctive Facial Features

Mowat-Wilson syndrome (MWS) is characterized by a set of distinctive facial features, which are often one of the first signs of the condition. These features include:

• High forehead
• Frontal bossing
• Large eyebrows that are medially flaring and sparse in the middle part [2]
• Deep-set, widely spaced eyes
• Broad nasal bridge with a rounded nasal tip
• Prominent and pointed chin

These facial features can vary in severity and may not be present in all individuals with MWS.

Intellectual Disability

Individuals with MWS often experience intellectual disability, which can range from mild to severe [1]. This can impact their cognitive abilities, communication skills, and ability to learn new information.

Seizures and Other Symptoms

In addition to distinctive facial features and intellectual disability, individuals with MWS may also experience seizures, delayed development, and an intestinal disorder called Hirschsprung disease [5][6][7]. Some individuals may also have heart defects and microcephaly (a small head size) [8].

It's worth noting that the severity and range of symptoms can vary widely among individuals with MWS. If you or someone you know has been diagnosed with this condition, it's essential to work closely with a healthcare team to develop a personalized treatment plan.

References: [1] - Characterized by intellectual disability, distinctive facial features and seizures. [2] - The typical characteristic facies of MWS includes a high forehead, frontal bossing, large eyebrows that are medially flaring and sparse in the middle part, ... [3] - Prominent Facial features: a square-shaped face with deep-set, widely spaced eyes, broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; [4] - Mar 28, 2007 — Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, ... [5] - Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called ... [6] - Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called ... [7] - Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called ... [8] - Aug 10, 2022 — Primary symptoms of MWS include severe intellectual impairment, microcephaly, seizures, heart defects, and distinctive facial features.

Mowat-Wilson Syndrome: A Rare Genetic Condition

Mowat-Wilson syndrome (MWS) is a rare genetic condition characterized by distinctive facial features and various physical abnormalities [9]. The typical characteristic facies of MWS includes a high forehead, frontal bossing, large eyebrows that are medially flaring and sparse in the middle part, hypertelorism, deepset but large eyes, large and uplifted ear lobes with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped expression [3].

Diagnostic Testing

An initial diagnosis of MWS is made through observation of the associated physical characteristics and can be confirmed by molecular genetic testing for mutations in the ZEB2 gene, which is considered the gold standard for diagnosing MWS [5]. Chromosomal microarray analysis (CMA) is often performed first, followed by exome sequencing if CMA is normal [2].

Genetic Basis

Mowat-Wilson syndrome is a genetic condition due to mutation in the ZEB2 gene located in chromosome 2 and usually follows an autosomal dominant inheritance pattern [9]. The test for mutations in the ZEB2 gene provides full coverage of all coding exons of the gene, plus ~10 bases of flanking noncoding DNA [7].

Clinical Features

Major signs of MWS frequently include distinctive facial features, such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression [6]. Congenital heart defects are also commonly associated with MWS.

References

[1] Last updated: 4/29/2024. Years published: 2005, 2006, 2012, 2017, 2020, 2024. [2] Mar 28, 2007 — Chromosomal microarray analysis (CMA) is often performed first. If CMA is normal, exome sequencing is the most commonly used next genomic ... [3] The typical characteristic facies of MWS includes a high forehead, frontal bossing, large eyebrows that are medially flaring and sparse in the middle part, hypertelorism, deepset but large eyes, large and uplifted ear lobes with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth with M-shaped ... [4] An initial diagnosis of MWS is made through observation of the associated physical characteristics and can be confirmed by molecular genetic testing for mutations in the ZEB2 gene. [5] Molecular genetic testing for mutations in the ZEB2 gene is considered the gold standard for diagnosing MWS. [6] Major signs of MWS frequently include distinctive facial features, such as widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression. [7] The test for mutations in the ZEB2 gene provides full coverage of all coding exons of the gene, plus ~10 bases of flanking noncoding DNA. [8] Mowat-Wilson syndrome is a genetic condition due to mutation in the ZEB2 gene located in chromosome 2 and usually follows an autosomal dominant inheritance pattern.

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects multiple systems in the body. While there is no standard treatment for MWS, various medications have been used to manage its symptoms.

Seizure Management

According to search results [4], seizures are common in individuals with MWS and require standard therapy. However, valproic acid has been reported to be the most effective drug for both focal and atypical absence seizures in patients with MWS [1].

Behavioral Issues

Risperidone has been found to be moderately helpful in reducing the frequency and intensity of tantrums in individuals with MWS [3]. However, overall behavior remained significantly problematic.

Other Medications

Various trials consisting of atypical antipsychotics and mood stabilizers were unsuccessful in managing symptoms in one patient with MWS [9]. Eventually, the patient stabilized on a different medication regimen.

Important Considerations

It's essential to note that bone density can be decreased with prolonged anti-epileptic drug treatment, so this is an important aspect to target during physiotherapy [6]. Additionally, myoclonic seizures are frequent in MWS, and oral antiepileptic therapy must be evaluated carefully and possibly adjusted [7].

Current Status

As of 2024, no standard treatment has been found for MWS, and all solutions have supported increasing patients' quality of life [5]. Genetic counseling is also an essential aspect of managing the condition.

References: [1] Search result 1 [3] Search result 3 [4] Search result 4 [5] Search result 5 [6] Search result 6 [7] Search result 7 [9] Search result 9

Mowat-Wilson syndrome (MWS) can be challenging to diagnose due to its variable presentation and overlap with other congenital anomalies. However, a differential diagnosis is essential to establish the correct diagnosis.

Key Features for Differential Diagnosis

• Many of the congenital anomalies seen in MWS can be seen as isolated anomalies in an otherwise healthy individual [1].
• The presence of distinctive facial features, developmental delay/intellectual disability, and seizures are key indicators of MWS [2].
• Hirschsprung disease (HSCR) is a common finding in individuals with MWS, but it can also occur as an isolated condition [3].

Differential Diagnosis Considerations

• The differential diagnosis for MWS includes other genetic conditions that present with similar features, such as:
  • Chromosomal abnormalities
  • Other syndromes with intellectual disability and distinctive facial features (e.g., Prader-Willi syndrome)
  • Neurodevelopmental disorders (e.g., autism spectrum disorder) [4]
• A thorough medical history, physical examination, and diagnostic testing are essential to rule out other conditions and establish a diagnosis of MWS.

Diagnostic Testing

• Molecular genetic testing for mutations in the ZEB2 gene is considered the gold standard for diagnosing MWS [5].
• Standard chromosome testing may be undertaken in conjunction with molecular genetic testing to confirm the diagnosis.

In summary, differential diagnosis of Mowat-Wilson syndrome requires a comprehensive evaluation of clinical features, medical history, and diagnostic testing. A thorough understanding of the condition's variable presentation and overlap with other congenital anomalies is essential for accurate diagnosis.

References:

[1] Mar 28, 2007 [2] Mar 28, 2007 [3] Jun 1, 2015 [4] by L Garavelli · 2007 · Cited by 191 [5] by H Pachajoa · 2022 · Cited by 2