Clinical Assessment: History, Dysmorphology, and Physical Examination
Describe before you diagnose
The clinical assessment domain tests whether you can gather and organize data, not whether you can name a syndrome from a photograph. A complete evaluation includes a three-generation pedigree, prenatal and birth history (exposures, growth, delivery complications), neonatal course, developmental milestones with ages, growth plotted on appropriate charts, and a systematic physical examination.
Dysmorphology requires objective description rather than interpretation: record measurements, laterality, and standard terminology (for example, upslanting palpebral fissures, short palpebral fissures, broad nasal bridge, single transverse palmar crease). Minor anomalies matter most when multiple, when they form a pattern, and when they co-occur with major malformations or growth abnormalities. Photographs, when consented, document change over time.
Key examination targets include growth parameters and head circumference, hands and feet, spine and skin (neurocutaneous stigmata, café-au-lait macules, ash-leaf spots), eyes, cardiac auscultation, abdominal and genital examination, joint mobility and skin elasticity for connective tissue disorders, and neurologic tone and reflexes. Examine the parents: a mild parental phenotype can reframe an apparently de novo condition.
Traps
Naming a syndrome from a single feature; concluding that a normal examination excludes a metabolic or mitochondrial disorder; failing to examine parents; ignoring consanguinity; and describing features with vague or judgmental language instead of measurements and standard terms.
Rule of thumb
For any suspected dominantly inherited or apparently de novo condition, examine both parents and obtain a three-generation pedigree before ordering testing. Parental findings frequently change the interpretation of a proband's result and the recurrence risk you quote.