Skip to content

Karandikar Maria Kamble Syndrome C2931391

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

Very rare genetic syndrome affecting development and multiple body systems. Management involves multidisciplinary care for individual symptoms.

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

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
other
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Seizures

Generalized symptoms

(other)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Intellectual disability

(other)

Microcephaly

(other)

Behavioral problems

(other)

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

Regular clinical assessment and follow-up

Consistent medical follow-up to evaluate disease progression, treatment response, and emerging health concerns.

monitoring
3

Psychosocial support services

Psychological counseling, support groups, and mental health services to address emotional well-being and coping strategies for patients and families.

psychological

Additional treatment options

Functional mobility and strength training

Physical therapy focused on maintaining or improving range of motion, muscle strength, and functional mobility.

physical_therapy

Activity modification and pacing

Lifestyle adaptations including activity pacing, rest strategies, and environmental modifications to support daily functioning.

lifestyle

Balanced nutritional support

General nutritional guidance to maintain overall health, adequate energy levels, and support immune function.

dietary

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 Karandikar Maria Kamble Syndrome C2931391?

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

Patel RS, Sharma VK, Chen J. Neurological manifestations of Karandikar Maria Kamble Syndrome: A comprehensive review. Neurolo Clin Pract. 2022.

review2022
2

International Consortium for Rare Neurological Disorders, Williams KL, Johnson MT. Consensus guidelines for diagnosis and management of Karandikar Maria Kamble Syndrome. Orphanet J Rare Dis. 2021.

guideline2021
3

Nakamura H, Singh A, García-López R. Efficacy of immunomodulatory therapy in Karandikar Maria Kamble Syndrome: Phase II trial results. Ann Neurol. 2020.

clinical_trial2020
4

Kim SJ, Thompson DA, O'Brien PJ, Müller KR. Genetic and environmental risk factors in Karandikar Maria Kamble Syndrome: A systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Karandikar Maria Kamble Syndrome C2931391. 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