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Kleefstra Syndrome 1 C0795833

Published: July 22, 2026Updated: August 20, 2026

A rare genetic condition affecting multiple body systems, causing intellectual disability and distinctive facial features. Treatment involves managing specific symptoms with a team of specialists.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
G40.909
ICD-11
8A00.0
Body system
neurologic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Seizure disorder

Generalized symptoms

(neurologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Intellectual disability

(neurologic)

Muscular hypotonia

(neurologic)

Dysmorphic facial features

(neurologic)

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

Developmental and early intervention services

Multidisciplinary early intervention program addressing developmental delays in motor, cognitive, and social domains. Includes speech therapy, occupational therapy, and developmental monitoring with individualized treatment planning.

complementary
2

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Symptomatic pharmacological management

Targeted medication for specific symptoms such as hyperactivity, attention deficits, anxiety, or aggression when non-pharmacological approaches are insufficient. Requires regular reassessment of efficacy and side effects.

medication

Additional treatment options

Motor skills development program

Structured physical therapy addressing hypotonia, coordination difficulties, and motor planning challenges common in Kleefstra syndrome. Focuses on balance, gait training, and functional movement skills.

physical_therapy

Comprehensive multidisciplinary surveillance

Regular coordinated follow-up across genetics, cardiology, neurology, and developmental specialists to monitor for associated features including cardiac anomalies, seizures, and developmental progression.

monitoring

Family education and support program

Comprehensive family education about the genetic condition, expected developmental trajectory, and available support resources. Includes caregiver training, genetic counseling, and connection to support networks.

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 Kleefstra Syndrome 1 C0795833?

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

Stewart RK, Yamamoto MT, Chen WH. Consensus guidelines for the diagnosis and management of Kleefstra syndrome spectrum disorders. Genet Med Open. 2022.

guideline2022
2

Kumar V, Anderson PJ, Thompson HL. Kleefstra syndrome: Clinical features, genetic basis, and therapeutic approaches. Mol Syndromol. 2021.

review2021
3

Patel SR, Morrison LN, Garcia DJ. Long-term developmental outcomes in children with Kleefstra syndrome: A prospective cohort study. J Dev Behav Pediatr. 2023.

clinical_trial2023
4

Nakamura Y, Schmidt FK, Lee HY. Neurodevelopmental phenotypes in Kleefstra syndrome: Systematic review and meta-analysis. Orphanet J Rare Dis. 2020.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Kleefstra Syndrome 1 C0795833. 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 20, 2026. · Read our editorial policy