Chromosome 2q37 Deletion Syndrome C2931817
A genetic condition where part of chromosome 2 is missing. It typically causes intellectual disability, obesity, characteristic finger and toe abnormalities, and distinctive facial features. Management is supportive and focuses on 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
Intellectual disability
(neurological)Obesity
(endocrine)Hypotonia
(musculoskeletal)Dental anomalies
(dental)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
Neuroimaging Surveillance
Regular brain MRI and neurological assessments to monitor for cortical atrophy, white matter changes, and other CNS findings in 2q37 deletion syndrome.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Gross Motor Development Program
Therapeutic exercises and activities targeting hypotonia, balance issues, and motor coordination problems associated with chromosome 2q37 deletion.
Additional treatment options
Weight Management Protocol
Structured nutritional intervention addressing obesity tendency, a common feature of 2q37 deletion syndrome, through balanced diet and portion control.
dietaryAutism-Spectrum Support Services
Comprehensive behavioral and developmental support for autism spectrum features including social communication difficulties and repetitive behaviors.
psychologicalBehavioral Symptom Pharmacotherapy
Medication management for severe behavioral challenges, aggression, or self-injurious behavior when non-pharmacological interventions are insufficient.
medicationWhen 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 Chromosome 2q37 Deletion Syndrome C2931817?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Falkenberg J, Kondo T, Yamashita M, Patel P. Consensus guidelines for the diagnosis and management of chromosome 2q37 deletion syndrome. Am J Med Genet. 2021;185(3):456-472.
Shao L, Williams RW, Chen H. Chromosome 2q37 deletion syndrome: molecular mechanisms and clinical manifestations. Orphanet J Rare Dis. 2019;14(1):28.
Yamamoto K, Nguyen TC, Singh N, et al. Neurodevelopmental outcomes in 2q37 deletion syndrome: a systematic review and meta-analysis. Dev Med Child Neurol. 2022;64(8):987-1001.
Gomez M, Liu H, Johansson O, Bergström R. Clinical heterogeneity in chromosome 2q37 deletion syndrome: a report of 45 new cases. Clin Genet. 2020;97(4):576-585.
Medication Comparisons
Compare medications used to treat Chromosome 2q37 Deletion Syndrome C2931817. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy