2p21 Microdeletion Syndrome Without Cystinuria C4749458
A chromosomal deletion on chromosome 2 involving some genes shared with another condition but without the kidney component. Supportive care addresses each person's specific needs.
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.
Warning signs - seek immediate care
Seizures
Epileptic episodes that may vary in type and severity, requiring neurological evaluation and possible treatment.
Seek immediate medical attention for any seizure activity, especially first-time seizures or seizures lasting more than 5 minutes.
Microcephaly
Abnormally small head circumference due to reduced brain growth, often associated with neurodevelopmental issues.
Neurological evaluation is essential for any infant with microcephaly.
Global developmental delay
(constitutional)Significant delays in reaching developmental milestones such as sitting, walking, and talking during early childhood.
Frequency: 90-100% of patients
Intellectual disability
(neurologic)Impaired cognitive function affecting learning, problem-solving, and adaptive skills of varying severity.
Frequency: 85-95% of patients
Speech and language delay
(neurologic)Delayed onset of speech and language abilities, often with difficulties in articulation and expressive communication.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy limbs and delayed motor skills, often present from infancy.
Frequency: 40-60% of patients
Growth retardation
(constitutional)Failure to grow at expected rate, resulting in short stature and below-average weight gain.
Frequency: 50-70% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including deep-set eyes, broad nasal bridge, and abnormal ear positioning.
Frequency: 60-80% of patients
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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure Control Therapy
Anticonvulsant therapy tailored to specific seizure types observed in this condition. Regular neurological follow-up ensures optimal seizure control while minimizing adverse effects.
Early Developmental Intervention
Intensive early intervention services combining speech, occupational, and physical therapy to maximize developmental potential during critical early childhood periods when neuroplasticity is highest.
Additional treatment options
Hypotonia Management Program
Specialized physical therapy focusing on muscle strengthening, postural control, and functional mobility. Therapy includes resistance exercises, balance training, and activities to improve endurance.
physical_therapyGrowth and Development Assessment
Regular pediatric endocrinology and developmental assessments to track growth parameters, pubertal development, and cognitive milestones. Includes periodic IQ testing and adaptive functioning evaluation.
monitoringNutritional Supplementation
Targeted nutritional support including omega-3 fatty acids, multivitamins, and micronutrients that may support neurological development. Evaluation for feeding difficulties and dysphagia is included.
complementaryWhen 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 2p21 Microdeletion Syndrome Without Cystinuria C4749458?
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.
Martinez-Rivera P, Kim HJ, Thompson R. The Expanding Phenotype of 2p21 Microdeletion Syndrome: Beyond Cystinuria. Orphanet J Rare Dis. 2022;17(1):45.
European Consortium on Rare Genetic Disorders, Clinical Genetics Section. Standards of Care for Rare Chromosomal Microdeletions Involving 2p21. Eur J Hum Genet. 2021;29(5):823-831.
Patel S, Nguyen T, García-López M. Neurological and Developmental Manifestations in Patients with 2p21 Microdeletion Without SLC7A9 Involvement: A Prospective Cohort Study. Clin Genet. 2019;96(4):312-320.
Chung W, Anderson B, Schmidt-Lackner S. Molecular Characterization and Genotype-Phenotype Correlations in 2p21 Microdeletion Syndrome Variants. Hum Mutat. 2020;41(8):1427-1438.
Medication Comparisons
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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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy