Chromosome 1p36 Deletion Syndrome Proximal C5562114
A rare genetic condition involving deletion of genetic material near chromosome 1p36, leading to developmental challenges, intellectual disability, and various medical issues. Supportive care and early interventions help.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(Neurological)Feeding difficulties
(Gastrointestinal)Seizures
(Neurological)Brain malformation
(Neurological)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Proximal Chromosome 1p36 Monitoring
Targeted medical surveillance focusing on neurological manifestations, growth parameters, and endocrine function specific to proximal 1p36 deletions, with regular specialist consultations.
Motor Skill Development Program
Therapeutic interventions targeting hypotonia, motor coordination, and balance through progressive exercises and adaptive techniques to improve functional mobility and prevent secondary complications.
Additional treatment options
Nutritional Support and Feeding Management
Comprehensive nutritional assessment and intervention for feeding difficulties, ensuring adequate caloric intake and micronutrient levels through modified food textures and supplementation as needed.
dietaryCognitive and Adaptive Support Services
Individualized education planning and adaptive skill training to maximize learning potential and daily living skills appropriate to developmental level.
psychologicalAdjunctive Therapeutic Approaches
Integration of complementary therapies such as music therapy, hydrotherapy, and animal-assisted therapy to enhance overall wellbeing, social engagement, and sensory integration.
complementaryWhen 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 Chromosome 1p36 Deletion Syndrome Proximal C5562114?
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.
Shapiro R, Belmont KJ, Baldridge D. Chromosome 1p36 deletion syndrome: Clinical features and molecular mechanisms. Am J Med Genet C Semin Med Genet. 2020;184(4):897-912.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities. Genet Med. 2019;21(3):481-489.
Gajecka M, Saitta SC, Glotzbach CD, et al. Clinical phenotype spectrum in patients with 1p36 monosomy: A multicenter retrospective study. Orphanet J Rare Dis. 2022;17(1):245.
Windpassinger C, Betz RC, Kroisel PM, et al. Neurodevelopmental manifestations in 1p36 deletion syndrome: A systematic review. Lancet Neurol. 2021;20(8):601-614.
Medication Comparisons
Compare medications used to treat Chromosome 1p36 Deletion Syndrome Proximal C5562114. 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