Q87.85
MED13L syndrome
Clinical Classification Guidelines
Inclusion Terms
- Asadollahi-Rauch syndrome
- Mediator complex subunit 13L syndrome
Code Also
- , if applicable, any associated manifestations such as:
- autism spectrum disorder (F84.0-)
- congenital malformations of cardiac septa (Q21.-)
- epilepsy and recurrent seizures (G40.-)
- intellectual disability (F70-F79)
Medical Intelligence & Overview
MED13L syndrome, also known as Asadollahi-Rauch syndrome or mediator complex subunit 13L syndrome, is a rare genetic disorder characterized by a variety of physical, developmental, and neurological features. It is caused by mutations in the MED13L gene, which plays a role in gene regulation during development. Individuals with this syndrome may experience a combination of intellectual disability, speech delays, and distinctive facial features. Awareness of the condition can aid in early diagnosis and appropriate management, although there is currently no cure available.
Causes & Symptoms
Clinical Causes: Genetic mutations in the MED13L gene Inheritance pattern generally appears to be de novo, meaning the mutation occurs spontaneously and is not inherited from parents
Key Symptoms: Intellectual disability ranging from mild to severe Delayed speech and language development Distinct facial features such as a broad forehead, wide-set eyes, and a prominent jaw Developmental delays in motor skills such as crawling and walking Behavioral challenges including autism spectrum disorder traits Hypotonia, or decreased muscle tone Possible congenital heart defects Other associated anomalies may include eye abnormalities or hearing issues
Diagnostic & Treatment
Diagnosis Path: Diagnosis is generally made based on clinical evaluation of physical and developmental features. Genetic testing, such as next-generation sequencing or specific MED13L gene analysis, confirms the presence of mutations. Early diagnosis can facilitate tailored educational and developmental interventions, and genetic counseling may be recommended for family planning purposes.
Treatment Protocols: Speech and language therapy to improve communication skills Physical and occupational therapies to enhance motor development Behavioral therapies for behavioral challenges Medical interventions for associated health issues such as heart defects Educational support programs to aid learning and development
Clinical Advice & FAQs
Billing Guidance
Is Q87.85 a billable ICD-10 code?
Yes, Q87.85 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report Q87.85?
Clinical documentation must specify the nature of MED13L syndrome and any associated comorbidities for accurate reporting.
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