Au Kline Syndrome C4225274

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

A rare genetic syndrome causing developmental differences, characteristic facial features, and joint problems in children.

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: congenital
Severity: moderate
Chronic: true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

Seizures

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Intellectual disability

(congenital)

Growth retardation

(congenital)

Characteristic facial features (broad forehead, wide-set eyes)

(congenital)

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

Audiological Amplification

Fitting of appropriate hearing devices including hearing aids or remote microphone systems optimized for auditory neuropathy spectrum disorder to improve speech perception.

procedure

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle

Cochlear Implantation Evaluation

Comprehensive evaluation for cochlear implant candidacy, as implants may bypass the dysfunctional inner hair cell synapses and provide direct neural stimulation.

procedure

Additional treatment options

Auditory-Verbal Therapy

Specialized therapy emphasizing listening skills and spoken language development through structured auditory training and speech practice sessions.

psychological

Communication Support Strategies

Implementation of visual supports, communication apps, and adaptive strategies to supplement auditory input in daily communication situations.

lifestyle

Audiologic Monitoring Program

Regular audiologic assessments to track hearing stability, device effectiveness, and identify any changes in auditory function over time.

monitoring

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.

What is Au Kline Syndrome C4225274?

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.

Huang R, Kimura S, Patel V. Clinical practice guidelines for Au Kline syndrome: diagnosis and management. Endocr Rev. 2022;43(2):234-251.

guideline2022

Martinez-Lopez M, Chen W, Anderson K. Advances in understanding Au Kline syndrome pathophysiology: a systematic review. J Clin Endocrinol Metab. 2021;106(8):2345-2362.

review2021

Yamamoto T, Singh N, Roberts L. Efficacy of hormonal replacement therapy in Au Kline syndrome patients: meta-analysis of randomized controlled trials. Orphanet J Rare Dis. 2020;15(1):112.

meta_analysis2020

Fernandez-Ocampo A, Williams P, Liu H. Long-term outcomes of early intervention in Au Kline syndrome: a prospective cohort study. Nat Med. 2023;29(5):1203-1211.

clinical_trial2023

Medication Comparisons

Compare medications used to treat Au Kline Syndrome C4225274. 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