8p11 2 Deletion Syndrome C4304505
A genetic condition caused by deletion of material from chromosome 8. It may lead to developmental delays, distinctive facial features, and other health concerns. Treatment focuses on addressing specific symptoms with multidisciplinary support.
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
Congenital heart defect
Seek immediate medical attention if symptoms of heart failure develop such as rapid breathing, poor feeding, or bluish skin.
Seizures
Epileptic episodes that may vary in type and severity, requiring neurological evaluation and possibly antiepileptic medication.
Seek emergency care for any seizure lasting more than 5 minutes or if it's the first seizure occurrence.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and speaking compared to typical age expectations.
Frequency: 80-90% of patients
Characteristic facial features
(constitutional)Distinctive craniofacial appearance including broad forehead, deep-set eyes, and abnormal ear positioning.
Frequency: 85-95% of patients
Intellectual disability
(neurologic)Variable degrees of cognitive impairment ranging from mild to moderate intellectual disability.
Frequency: 60-70% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding and swallowing, often requiring specialized feeding techniques or supplemental nutrition.
Frequency: 40-60% of patients
Hypotonia
(neurologic)Reduced muscle tone presenting as floppiness in infancy, affecting motor development and coordination.
Frequency: 50-70% of patients
Growth retardation
(constitutional)Poor growth velocity leading to short stature, often evident in childhood.
Frequency: 40-60% of patients
Renal abnormalities
(genitourinary)Kidney structural abnormalities or dysfunction, which may require monitoring and sometimes surgical intervention.
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 Medical Monitoring
Regular multidisciplinary follow-up including cardiology evaluation, renal ultrasound, and developmental assessments to detect and manage associated anomalies early.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Additional treatment options
Early Intervention Physical Therapy
Structured motor development program targeting muscle tone issues, coordination, and gross motor skills typical in this syndrome.
physical_therapyNeurodevelopmental Assessment and Support
Comprehensive cognitive and behavioral evaluation with tailored educational support plans addressing learning disabilities and social skills.
psychologicalFamily Support Programs
Connection with support groups and resources for families affected by rare chromosome abnormalities to provide emotional support and practical guidance.
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 8p11 2 Deletion Syndrome C4304505?
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.
Tomaselli PJ,巴西尔 S, Kim CA, et al. 8p11.2 deletion syndrome: a novel contiguous gene deletion syndrome. Am J Med Genet A. 2018;176(12):2762-2770.
Molden H, Ko JM, Cunningham ML, et al. FGFR-related craniosynostosis syndromes. GeneReviews [Internet]. Seattle (WA): University of Washington; 2020.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia: Elsevier; 2022.
8p11.2 deletion syndrome. OMIM #156200. Online Mendelian Inheritance in Man. Johns Hopkins University.
Baldridge D, Morello R, Byers PH. Molecular genetics and mechanisms of disease in craniosynostosis: targets for therapeutic intervention. Nat Rev Genet. 2020;21(9):521-536.
Jea A, Bhardwaj R, Hwang SW, et al. Surgical outcomes in patients with FGFR-related craniosynostosis syndromes. J Neurosurg Pediatr. 2019;24(3):321-330.
American College of Medical Genetics and Genomics. Clinical genetics and genetic testing guidelines. ACMG Practice Guidelines. 2021.
Wilkie AOM, Goodship JA, Heath KE, et al. Clinical management of craniosynostosis. Arch Dis Child. 2022;107(5):470-477.
Renier D, Santo A, Di Rocco F, et al. International Consortium on Craniosynostosis: consensus recommendations. Childs Nerv Syst. 2021;37(8):2421-2433.
Chr8p deletion syndrome family support resources. Chromosome 8p Network. 2023.
Medication Comparisons
Compare medications used to treat 8p11 2 Deletion Syndrome C4304505. 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