2q23 1 Microdeletion Syndrome C4304532
A rare chromosomal disorder involving deletion of genetic material on chromosome 2. It may cause developmental delays, movement problems, and seizures. Treatment 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.
Warning signs - seek immediate care
Seizures
Recurrent seizure activity of various types including focal, generalized, or infantile spasms.
Seek immediate medical attention for any seizure episode lasting more than 5 minutes or if accompanied by breathing difficulties.
Congenital heart defects
Structural heart abnormalities present at birth, including septal defects, valve abnormalities, or other cardiac malformations.
Immediate cardiology evaluation is required if a heart defect is suspected; cyanosis or breathing difficulties warrant emergency care.
Global developmental delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and crawling compared to typical children of the same age.
Frequency: 90-100% of patients
Intellectual disability
(neurologic)Impaired cognitive functioning affecting learning, problem-solving, and adaptive skills of varying severity.
Frequency: 90-100% of patients
Speech and language impairment
(neurologic)Severe delays in speech development with limited verbal communication; many patients remain non-verbal or use minimal words.
Frequency: 90-100% of patients
Microcephaly
(constitutional)Abnormally small head circumference present at birth or developing in early infancy due to reduced brain growth.
Frequency: 70-85% of patients
Hypotonia
(neurologic)Reduced muscle tone present from infancy, causing floppy appearance and delayed motor skills.
Frequency: 50-70% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or accepting food textures, often requiring specialized feeding techniques or supplements.
Frequency: 50-65% of patients
Distinctive facial features
(constitutional)Characteristic facial appearance including broad nasal bridge, long philtrum, abnormal ear shape, and micrognathia.
Frequency: 80-95% of patients
Vision impairment
(neurologic)Various visual problems including strabismus, refractive errors, optic nerve atrophy, or cortical visual impairment.
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Developmental Assessment
Regular multidisciplinary evaluations to monitor developmental milestones, growth patterns, and identify emerging complications associated with the 2q23.1 microdeletion.
Early Intervention Physical Therapy
Structured physical therapy program focusing on motor skill development, muscle tone normalization, and coordination improvement tailored to individual capabilities.
Additional treatment options
Behavioral and Cognitive Interventions
Applied behavior analysis and cognitive behavioral strategies to address behavioral challenges, improve social skills, and support emotional regulation.
psychologicalSymptomatic Pharmacological Management
Medications may be prescribed to manage specific symptoms such as seizures, hyperactivity, sleep disturbances, or anxiety on an as-needed basis.
medicationOccupational Therapy Services
Occupational therapy focusing on daily living skills, sensory integration, and fine motor development to improve functional independence.
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 2q23 1 Microdeletion Syndrome C4304532?
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.
Mandel et al. 2q23.1 microdeletion syndrome. In: GeneReviews [Internet]. University of Washington, Seattle.
Chung RH, et al. 2q23.1 microdeletion syndrome: refining the clinical phenotype. Am J Med Genet A.
Le Duc D, et al. 2q23.1 microdeletion syndrome: refined characterization of the clinical phenotype. Clin Genet.
Slavotinek AM, et al. 2q23.1 microdeletion syndrome: clinical and molecular characterization of three patients. Eur J Med Genet.
Tattini L, et al. 2q23.1 microdeletion syndrome: report of a case with severe intellectual disability and review. Mol Syndromol.
Leduc-Roge A. 2q23.1 microdeletion syndrome: phenotype and MEF2C haploinsufficiency. Thèse de Doctorat, Université de Strasbourg.
Brockmann K, et al. 2q23.1 microdeletion syndrome - a contiguous gene deletion syndrome. Neuropediatrics.
Zhang Y, et al. Clinical and genetic analysis of 2q23.1 microdeletion syndrome: a case report and literature review. BMC Med Genet.
Online Mendelian Inheritance in Man (OMIM). #613673 - 2q23.1 Microdeletion Syndrome. Johns Hopkins University.
Orphanet. 2q23.1 microdeletion syndrome. ORPHA:163722.
Medication Comparisons
Compare medications used to treat 2q23 1 Microdeletion Syndrome C4304532. 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.
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