| Physical examination | Diagnostic considerations based on findings |
| Head circumference | - Macrocephaly – Hydrocephalus or hemimegalencephaly
- Microcephaly – Congenital CNS infections (especially TORCH infections, Zika virus) or congenital CNS lesions
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| Skin examination | - Vesicular lesions – Consider HSV infection
- Vesicular lesions in a dermatomal pattern – Incontinentia pigmenti
- Port wine birthmark of the forehead/eyelid – Consider Sturge-Weber syndrome and evaluate for glaucoma
- Nevus or discoloration in a dermatomal or whorled pattern – Developmental cerebral dysgenesis
- "Blueberry muffin" skin appearance – Congenital Rubella infection (or other TORCH infections)
- Ash leaf macule – Tuberous sclerosis
- Cutis aplasia (lack of hair and skin in a localized area) – Associated developmental cerebral dysgenesis
|
| Ophthalmological examination | - Hypoplastic optic nerves – Cerebral dysgenesis (eg, septo-optic dysplasia)
- Chorioretinitis – Congenital CNS infections
- Abnormal retinal pigmentation – Neuronal ceroid lipofuscinosis
- Coloboma – Agenesis of the corpus callosum
- Congenital cataract – Congenital CNS infections (especially TORCH infections) or metabolic (storage) diseases
|
| Facial (or other) dysmorphism | - Hypotelorism, cleft lip/palate (mid-face abnormalities) – Cerebral dysgenesis (eg, holoprosencephaly)
- Multiple congenital anomalies – Chromosomal abnormalities (trisomy syndromes, partial deletions/duplications)
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| Mental status | - Irritable, jittery – Neonatal encephalopathy (eg, due to HIE, neonatal abstinence syndrome)
- Lethargy, decreased responsiveness – Neonatal encephalopathy (eg, due to HIE); severe systemic illness and/or infection (eg, meningoencephalitis)
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