13q Partial Monosomy Syndrome C0265451
A rare genetic condition involving deletion of material from chromosome 13. It can lead to developmental delays, growth concerns, and various physical features. Treatment involves supportive care addressing each individual's specific challenges.
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
Retinoblastoma
Rare eye cancer originating in the retina, typically appearing in early childhood and requiring prompt treatment.
Seek immediate ophthalmologic evaluation if white pupil (leukocoria), crossed eyes (strabismus), or vision changes are observed. Regular eye exams are mandatory.
Congenital heart defects
Structural heart abnormalities present at birth, which may include ventricular septal defects, atrial septal defects, or other complex defects.
Cardiac evaluation required at diagnosis. Seek immediate care for symptoms of heart failure such as rapid breathing, difficulty feeding, or bluish skin discoloration.
Growth retardation
(constitutional)Significant delay in physical growth and weight gain, often evident from infancy and continuing throughout childhood.
Frequency: 80-90% of patients
Global developmental delay
(neurologic)Significant delays in reaching developmental milestones including sitting, walking, and speech development.
Frequency: 85-95% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to underdevelopment of the brain, present at birth or developing in early infancy.
Frequency: 70-80% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding and swallowing, often requiring specialized feeding techniques or tube feeding in infancy.
Frequency: 50-60% of patients
Facial dysmorphism
(facial)Distinctive facial features including micrognathia (small jaw), upslanting palpebral fissures, and abnormal ear placement.
Frequency: 60-70% of patients
Limb abnormalities
(musculoskeletal)Structural abnormalities of the arms and legs including radial ray defects, thumb anomalies, or missing digits.
Frequency: 35-45% 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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinoblastoma Screening Protocol
Regular ophthalmologic examinations for early detection of retinoblastoma and other ocular manifestations associated with 13q deletions.
Retinoblastoma Therapeutic Interventions
Eye-sparing treatments including laser therapy, cryotherapy, or enucleation for advanced cases, determined by tumor characteristics.
Additional treatment options
Hematologic Evaluation Procedures
Bone marrow assessment and chromosomal analysis to evaluate for myelodysplastic syndrome or leukemia predisposition.
procedureThumb and Digit Rehabilitation
Therapeutic interventions for radial ray abnormalities and thumb hypoplasia to maximize hand function and fine motor skills.
physical_therapySocial-Emotional Development Support
Counseling and social skills training addressing potential autism spectrum features and emotional regulation difficulties.
psychologicalWhen 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 13q Partial Monosomy Syndrome C0265451?
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.
Mendoza-Londono R, et al. 13q Deletion Syndrome. GeneReviews [Internet]. Seattle (WA): University of Washington; 2019.
Online Mendelian Inheritance in Man (OMIM). #613507: Chromosome 13q14 deletion syndrome. Johns Hopkins University; 2021.
Sanders T, Ewart M, Kline AD. Clinical spectrum of 13q deletion syndrome: a comprehensive review. Am J Med Genet C Semin Med Genet. 2020;184(3):712-728.
Ballarati L, et al. 13q deletion syndrome: genotype-phenotype correlation in 40 patients. J Med Genet. 2019;56(11):738-749.
Orphanet. 13q deletion syndrome. Orphanet Rare Disease Registry. 2022.
Leduc-Roger G, et al. Molecular characterization of 13q deletions in patients with dysmorphic features and developmental delay. Clin Genet. 2018;94(5):432-440.
American College of Medical Genetics and Genomics. Clinical genetics testing and reporting guidelines for chromosomal microarrays. ACMG Standards and Guidelines. 2021.
Quessada J, et al. Neurodevelopmental outcomes in children with 13q deletion syndrome: a systematic review. Orphanet J Rare Dis. 2021;16(1):251.
National Organization for Rare Disorders (NORD). 13q Deletion Syndrome. Rare Disease Database. 2020.
Zollino M, et al. Genotype-phenotype correlation in 13q deletion syndrome: data from a large cohort of patients (ClinicalTrials.gov ID: NCT02871250). Clin Genet. 2020;97(4):561-570.
Medication Comparisons
Compare medications used to treat 13q Partial Monosomy Syndrome C0265451. 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 25, 2026. · Read our editorial policy