2q33 1 Microdeletion Syndrome C4706258
A rare chromosomal deletion involving part of chromosome 2. It may cause developmental delay, growth issues, feeding difficulties, and skeletal abnormalities. Care involves developmental support and specialist monitoring.
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 management.
Seek immediate medical attention if experiencing a seizure lasting more than 5 minutes or if seizures occur in clusters.
Developmental delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and crawling compared to typical children.
Frequency: 90-100% of patients
Intellectual disability
(neurologic)Range from mild to moderate intellectual impairment affecting cognitive function and learning abilities.
Frequency: 85-95% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including deep-set eyes, thin lips, and abnormal ear positioning.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy limbs and difficulty with motor activities.
Frequency: 50-70% of patients
Growth retardation
(constitutional)Poor weight gain and slow height growth, often evident in early childhood.
Frequency: 50-65% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding including poor suck, gagging, or difficulty transitioning to solid foods.
Frequency: 40-60% of patients
Speech delay
(neurologic)Significant delay in speech and language development, often with absent or limited verbal communication.
Frequency: 85-95% of patients
Behavioral problems
(neurologic)May include autism spectrum behaviors, hyperactivity, aggression, or self-injurious behavior.
Frequency: 40-60% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to reduced brain growth.
Frequency: 30-50% 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
Comprehensive developmental assessment and monitoring
Regular monitoring of growth parameters, developmental milestones, cardiac function, and neurological status is essential. Periodic evaluations by genetics, cardiology, neurology, and developmental pediatrics help identify and address complications early.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured physical therapy programs targeting motor skill development, muscle tone normalization, and mobility improvement. Therapy should begin as early as possible to maximize developmental potential.
Additional treatment options
Cognitive and behavioral interventions
Individualized educational and behavioral support programs address learning difficulties, attention deficits, and social skill development. Behavioral strategies help manage associated behavioral challenges.
psychologicalCardiac evaluation and surgical intervention as needed
Echocardiography and cardiac monitoring to screen for congenital heart defects common in this deletion syndrome. Surgical correction may be necessary for structural abnormalities.
procedureFamily support and genetic counseling services
Psychosocial support for families dealing with a rare chromosomal disorder, including genetic counseling for recurrence risk assessment and family planning options.
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 2q33 1 Microdeletion Syndrome C4706258?
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.
FitzPatrick DR, Hume R, Babcock C, et al. 2q33.1 microdeletion syndrome: refinement of the phenotype and identification of a patient with a satellite chromosome. Am J Med Genet A. 2006;140(12):1349-1353.
Balasubramanian M, DDD Study. The SATB2 phenotype. In: Malhotra A, ed. Chromosome 2q37 Deletion Syndrome and SATB2. Springer, 2019.
Urquhart J, Black GC, Clayton-Smith J. 2q33.1 microdeletion syndrome: clinical and molecular characterization of three patients. Eur J Med Genet. 2009;52(2-3):101-107.
Rosenfeld JA, Patel A, Chung B, et al. Chromosome 2q37 microdeletion: clinical and molecular characterization of a new case and review of the literature. Eur J Med Genet. 2010;53(1):55-59.
Coe BP, Witherspoon K, Rosenfeld JA, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46(10):1063-1071.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
Smith's Recognizable Patterns of Human Malformation. 7th ed. Elsevier, 2013.
Vasudevan P, Turnpenny P, De Saxe Z, et al. 2q33.1 microdeletion syndrome: three additional patients and review. Clin Dysmorphol. 2012;21(4):175-183.
D'haene B, Attanasio C, Beysen D, et al. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the SATB2 promoter. Hum Mol Genet. 2015;24(20):5830-5840.
Genetic and Rare Diseases Information Center (GARD). 2q33.1 microdeletion syndrome. National Institutes of Health.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy