Mowat Wilson Syndrome Due To Monosomy 2q22 C5437617
A chromosome deletion syndrome involving loss of genetic material from chromosome 2. It causes intellectual disability, characteristic facial features, and sometimes congenital heart or other organ anomalies. Treatment is supportive and addresses individual symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hirschsprung disease
(gastrointestinal)Agenesis of corpus callosum
(neurological)Congenital heart defects
(cardiovascular)Renal agenesis
(genitourinary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anticonvulsant therapy
Seizure management using appropriate anticonvulsant medications selected based on seizure semiology and EEG findings. Regular follow-up to assess efficacy and side effects.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Gastrointestinal surgical intervention
Surgical management of Hirschsprung disease or other GI anomalies associated with monosomy 2q22 deletion. May include pull-through procedures or colostomy depending on severity.
Additional treatment options
Comprehensive cardiac screening
Echocardiography and cardiology follow-up due to high incidence of congenital heart defects in patients with monosomy 2q22. Regular monitoring for progressive cardiac issues.
monitoringEarly developmental intervention
Intensive early intervention services including physical, occupational, and speech therapy to maximize developmental potential and address hypotonia.
physical_therapyNeuropsychological support services
Ongoing neuropsychological assessment and support addressing intellectual disability, behavioral challenges, and family counseling for caregivers.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Mowat Wilson Syndrome Due To Monosomy 2q22 C5437617?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy