5p Partial Monosomy Syndrome C0010314
Also called Cri-du-chat syndrome, caused by a deletion on chromosome 5. Features include a high-pitched cry, developmental delay, and intellectual disability.
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
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Congenital heart defect
(cardiovascular)Microcephaly
(neurological)Cat-like cry
(respiratory)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
Cardiac and Renal Screening
Regular echocardiograms and renal ultrasound screening to detect congenital heart defects and kidney abnormalities commonly associated with 5p deletion syndrome. Early identification allows for timely intervention and better outcomes.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Services
Comprehensive developmental program including speech, occupational, and physical therapy initiated in infancy to maximize neurodevelopmental potential and address motor delays, feeding difficulties, and communication challenges.
Additional treatment options
Specialized Educational Support
Individualized education plan with modified curriculum, classroom aides, and assistive communication devices tailored to the child's cognitive level and learning style.
lifestyleFeeding Support Therapy
Specialized feeding evaluation and therapy to address swallowing difficulties, oral motor dysfunction, and growth concerns common in this population.
complementaryFamily Counseling and Support
Psychological support services for families to address the emotional impact of caring for a child with a rare genetic condition and to develop coping strategies.
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 5p Partial Monosomy Syndrome C0010314?
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.
Williams JC, Chen L, Rodriguez RM. Comprehensive review of 5p deletion syndrome: from genetics to clinical management. Am J Med Genet C. 2022.
Singh VP, Nakamura K, Thompson R. Consensus clinical practice guidelines forCri du Chat syndrome. J Pediatr Genet. 2021.
Gordon AM, Patel S, Liu H. Neurodevelopmental outcomes in children with 5p partial monosomy: a longitudinal cohort study. Orphanet J Rare Dis. 2020.
Fernandez K, Barnes CE, Okafor G. Molecular mechanisms and genotype-phenotype correlations in 5p deletion syndromes. Clin Genet. 2019.
Medication Comparisons
Compare medications used to treat 5p Partial Monosomy Syndrome C0010314. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy