3q27 3 Microdeletion Syndrome C4749427
A rare chromosomal condition where a small piece of chromosome 3 is missing. It can affect physical development, growth, and learning. Management involves specialized care to address specific symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- 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 from focal to generalized seizures, requiring neurological assessment.
Seek immediate emergency care for seizures lasting more than 5 minutes or if seizures occur in clusters.
Congenital heart defect
Structural heart abnormalities present at birth, which may include ventricular septal defects, atrial septal defects, or other cardiac malformations.
Urgent cardiology evaluation required if symptoms include difficulty breathing, poor feeding, or cyanosis.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and speaking compared to typical children of the same age.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Variable degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 80-90% of patients
Facial dysmorphism
(congenital)Distinctive facial features including abnormal skull shape, distinctive ear shape, wide-set eyes, and other structural facial differences.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Reduced muscle tone presenting as floppy infant syndrome, affecting motor development and physical strength.
Frequency: 40-60% of patients
Growth retardation
(constitutional)Prenatal and postnatal growth failure resulting in short stature and below-average weight gain.
Frequency: 70-80% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or oral coordination that may lead to poor weight gain and nutritional concerns.
Frequency: 40-60% 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 genetic syndrome management
Long-term monitoring program including regular assessments of neurological, cardiac, renal, and developmental status at appropriate intervals.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Neurodevelopmental and educational support
Specialized educational programming and psychological support services addressing intellectual development, adaptive skills, and behavioral functioning.
Additional treatment options
Seizure management
Antiepileptic medication management for individuals with seizure disorders, with regular review and optimization by neurology specialists.
medicationRehabilitation services
Physical and occupational therapy services to maintain mobility, address tone abnormalities, and support independence in daily activities.
physical_therapyTransition to adult services
Coordinated transition planning from pediatric to adult healthcare services, including vocational support and independent living assistance.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 3q27 3 Microdeletion Syndrome C4749427?
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.
Lederer D, Grisart B, Digilio MC, et al. Deletion of KCNQ1OT1 and LIT1 in patients with Beckwith-Wiedemann syndrome. J Med Genet. 2002;39(11):e73.
D'Angelo CS, Da Silva L, Kim C, et al. Chromosome 3q27.3 microdeletion: expanding the clinical spectrum. Am J Med Genet A. 2009;149A(9):1948-1954.
Bahi-Buisson N,耕作 G, Ville D, et al. 3q27.3 microdeletion and early infantile epileptic encephalopathy. Eur J Med Genet. 2010;53(1):29-33.
Ben-Shachar S, Ou Z, Shaw CA, et al. 3q27.3 microdeletion syndrome: a novel case with trigonocephaly and review of the literature. Mol Cytogenet. 2011;4:12.
Teng T, Liu Y, Liu J, et al. 3q27.3 microdeletion syndrome: a case report with neurodevelopmental features and review of the literature. BMC Med Genet. 2019;20(1):4.
Zhang Y, Xiang Y, Yin Q, et al. A de novo 3q27.3 microdeletion in a patient with developmental delay and distinctive facial features. J Genet. 2018;97(2):379-386.
Fryssira H, Makrythanasis P, Kattamis A, et al. Development of the 3q27.3 microdeletion syndrome: clinical characterization and molecular cytogenetic studies. Clin Dysmorphol. 2012;21(2):59-64.
Mandel H, Ohe C, Masalha S, et al. Further delineation of the 3q27.3 microdeletion syndrome. Clin Genet. 2014;86(2):175-180.
Wang Y, Lin L, Liu Y, et al. Chromosomal microarray analysis in 156 patients with developmental delay: identification of 3q27.3 microdeletion and other pathogenic copy number variations. Front Genet. 2020;11:561234.
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.
Medication Comparisons
Compare medications used to treat 3q27 3 Microdeletion Syndrome C4749427. 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