Professional
Technical
IVT
dysmorphology consultation
Pronunciation: dis-mor-FOL-oh-jee
Specialized evaluation for children with unusual physical features that may indicate genetic syndromes.
Full Definition
A subspecialty consultation focused on identifying genetic syndromes through systematic evaluation of physical features, family history, and developmental patterns. Dysmorphologists assess facial features, growth patterns, organ anomalies, and neurodevelopmental profiles to establish syndrome diagnoses. These consultations often include genetic testing recommendations and provide crucial information for developmental prognosis and family counseling. Documentation requires precise terminology and standardized feature descriptions.
Usage
Usage note: Use precise terminology when describing dysmorphic features
In Context
- "Dysmorphology consultation identified features consistent with 22q11.2 deletion syndrome." — Genetics clinic report
- "The unusual facial features prompted referral for dysmorphology consultation." — Pediatric referral note
Also known as
clinical genetics evaluation
syndrome assessment
Don't confuse with
genetic counseling
metabolic consultation