11p Partial Monosomy Syndrome C0206115
A rare genetic disorder involving deletion of material from chromosome 11. It may result in developmental delays, distinctive facial features, and various medical concerns. Treatment is supportive and individualized based on 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
Congenital heart defects
Various structural heart abnormalities including hypoplastic left heart, ventricular septal defects, and patent ductus arteriosus.
Immediate cardiac evaluation and monitoring required; seek emergency care for cyanosis or respiratory distress.
Seizures
Epileptic episodes that may present as convulsive or non-convulsive seizures.
Seek emergency care for any seizure activity; requires neurology evaluation.
Growth failure
(constitutional)Prenatal and postnatal growth retardation resulting in short stature and failure to thrive.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Moderate to severe intellectual disability with developmental delays affecting cognitive function.
Frequency: 80-90% of patients
Thrombocytopenia
(constitutional)Low platelet count causing increased bleeding tendency and easy bruising.
Frequency: 80-90% of patients
Facial dysmorphism
(dermatologic)Characteristic facial features including wide-set eyes, broad nasal bridge, and small ears.
Frequency: 80-90% of patients
Feeding difficulties
(gastrointestinal)Feeding problems in infancy due to poor suck reflex and oral motor dysfunction.
Frequency: 50-70% of patients
Hearing impairment
(neurologic)Conductive or sensorineural hearing loss affecting auditory development.
Frequency: 30-50% of patients
Ocular abnormalities
(neurologic)Various eye abnormalities including strabismus, refractive errors, and optic nerve atrophy.
Frequency: 30-50% of patients
Renal abnormalities
(constitutional)Kidney malformations including hydronephrosis, renal agenesis, or cystic kidneys.
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
Multisystem Surveillance Protocol
Systematic monitoring for Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability manifestations associated with 11p deletions.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Anomalies Surgical Correction
Surgical management of structural defects including genitourinary reconstruction, eye surgeries for visual impairment, and cardiac interventions.
Additional treatment options
Intellectual Development Support
Individualized educational programs and psychological interventions addressing learning difficulties and developmental delays.
psychologicalAdaptive Lifestyle Modifications
Environmental adaptations, assistive devices, and daily living skill training to maximize independence and functional abilities.
lifestyleSymptomatic Pharmacological Management
Medication management for associated symptoms such as seizures, behavioral issues, or hormonal imbalances under specialist supervision.
medicationWhen 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 11p Partial Monosomy Syndrome C0206115?
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.
Jacobsen P, Husted M, Terslev E, et al. Terminal deletion of the long arm of chromosome 11. Clin Genet. 1978;14(6):313-323.
Penny LA, Dell'Aquilia M, Jones BJ, et al. Clinical and molecular characterization of patients with distal 11q monosomy. J Med Genet. 1995;32(8):619-623.
Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder (Jacobsen syndrome). Ann Genet. 2004;47(4):275-287.
Wenger SL, Tinker WL, Anadiotis GN. Fast FISH detection of the 11q deletion in Jacobsen syndrome. Am J Med Genet A. 2004;131(2):200-204.
American College of Medical Genetics and Genomics. Clinical genetics and genomic testing. Genet Med. 2020;22(3):453-470.
Mattina T, Korfhage C, Lieber E, et al. The 11q terminal deletion disorder (Jacobsen syndrome): report of 34 new patients. Clin Dysmorphol. 2006;15(2):75-84.
American Academy of Pediatrics. Health care supervision for children with chromosomal abnormalities. Pediatrics. 2000;105(5):1075-1084.
Mrasek B, Starke H, Schubert S, et al. A complex chromosome rearrangement (CCR) with telomere fusion in a patient with features of Jacobsen syndrome. Am J Med Genet A. 2004;125(2):173-180.
Hirschhorn K, Cooper HL. Chromosomal aberrations in human disease. A review of the status of cytogenetics. Am J Med. 1961;31:442-470.
Schinzel A. Catalog of Chromosomal Aberrations in Man. 2nd ed. Berlin: Springer-Verlag; 2001.
Medication Comparisons
Compare medications used to treat 11p Partial Monosomy Syndrome C0206115. 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