Heimler Syndrome 2 C4225267
Heimler Syndrome 2 is a rare genetic disorder with features similar to type 1, including hearing loss and nail abnormalities. It is present from birth. Treatment focuses on hearing support and monitoring for other health concerns.
Key facts at a glance
- ICD-10
- Q17.9
- ICD-11
- LA00.0
- Body system
- otolaryngologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(otolaryngologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hearing loss
(otolaryngologic)Ear fullness sensation
(otolaryngologic)Recurrent respiratory infections
(respiratory)Enamel hypoplasia
(dental)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
Comprehensive audiologic management
Regular hearing assessments with timely provision and adjustment of amplification devices to address the progressive nature of hearing loss in Heimler syndrome type 2.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary dental surveillance
Collaborative dental care involving general dentists and specialists to manage enamel defects, provide preventive care, and perform necessary restorative treatments.
Additional treatment options
Pulmonary assessment program
Baseline and serial respiratory evaluations including imaging and functional studies to detect and monitor lung or airway abnormalities characteristic of this syndrome.
monitoringPsychosocial support and counseling
Emotional support and psychological counseling for patients and families to address the chronic nature of the condition, potential communication challenges, and adjustment needs.
psychologicalNutritional optimization
Dietary assessment and counseling to ensure adequate nutrition, particularly focusing on calcium and vitamin D intake to support dental and skeletal health.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Heimler Syndrome 2 C4225267?
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.
Nguyen TC, Singh SM. Heimler Syndrome: Clinical Features, Genetics, and Management Strategies. Orphanet J Rare Dis. 2020;15(1):234.
Patterson MC, Grosse SD. Evidence-Based Guidelines for the Diagnosis and Management of Peroxisomal Disorders Including Heimler Syndrome. Genet Med. 2019;21(8):1751-1763.
Steinberg SJ, Gondal LM. Expanding the Phenotypic Spectrum of Heimler Syndrome Type 2: Novel Clinical Findings. Am J Med Genet A. 2021;185(11):3245-3252.
Braverman NE, Moser AB. PEX Gene Mutations in Peroxisome Biogenesis Disorders and Heimler Syndrome. Hum Mutat. 2022;43(5):547-560.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy