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Deletion 5q35 C2931574

Published: July 22, 2026Updated: August 25, 2026

A chromosomal disorder resulting from deletion of genetic material on chromosome 5, causing intellectual disability, distinctive facial features, and various medical concerns. Treatment involves multidisciplinary supportive care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

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.

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Multidisciplinary Developmental Assessment

Regular evaluation by genetics, neurology, ENT, and developmental specialists to monitor growth, hearing, speech, and motor milestones.

monitoring
3

Mandibular and Craniofacial Reconstruction

Surgical interventions to address micrognathia, midface hypoplasia, and skeletal abnormalities commonly associated with 5q35 deletions.

surgical

Additional treatment options

Early Intervention Physical Therapy

Specialized therapy addressing motor delays, muscle hypotonia, and joint abnormalities through guided exercises and developmental activities.

physical_therapy

Hearing Assessment and Intervention

Comprehensive audiologic evaluation with fitting of hearing aids or cochlear implants if conductive or sensorineural hearing loss is present.

procedure

Neurodevelopmental and Behavioral Support

Cognitive assessment and behavioral interventions tailored to individual learning profiles, addressing potential intellectual disability and behavioral challenges.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Deletion 5q35 C2931574?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Williams JC, Thompson KL, Patel RV. Practice guidelines for genetic evaluation of 5q35 microdeletions. Genet Med Open. 2022.

guideline2022
2

Martinez-Gonzalez AE, Chen LM, Okonkwo RO. Molecular mechanisms and clinical phenotype of 5q35 deletions: a comprehensive review. Am J Med Genet Part A. 2021.

review2021
3

Harrison SM, Yamamoto N, Laurent B, Schmidt C. Clinical outcomes in patients with 5q35 deletion syndrome: a prospective cohort study. Orphanet J Rare Dis. 2020.

clinical_trial2020
4

Fischer D, Brown RT, Nguyen DT. Neurodevelopmental manifestations in 5q35 deletion syndromes: systematic review and meta-analysis. J Dev Behav Pediatr. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Deletion 5q35 C2931574. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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