Synopsis
Stabilise an infant with congenital anomalies, describe findings precisely, distinguish isolated from multisystem patterns, select phenotype-led investigations, communicate uncertainty compassionately and coordinate surveillance, safeguarding and genomic follow-up.
- Stabilise airway, breathing, circulation, temperature, glucose and feeding before attempting to name a syndrome; physiological emergencies take priority over diagnostic completeness.
- Describe each finding by site, size, symmetry, function and associated features, using neutral language rather than undocumented syndrome labels or value-laden terms.
- Take pregnancy, exposure, infection, fetal movement, scan, delivery and three-generation family histories while recognising that parental recall may be limited during acute stress.
- Perform a head-to-toe examination including growth proportions, fontanelle, palate, heart, pulses, abdomen, genitalia, anus, spine, limbs, skin, tone, hearing and red reflex.
- Separate a single isolated anomaly from multiple anomalies or minor markers; the latter increase the probability of a shared genomic or developmental diagnosis.
- Investigations are phenotype-led and may include echocardiography, renal or brain imaging, hearing and eye assessment, infection studies and genomic testing under the NHS directory.
- Photographs can support expert review only with specific informed permission, secure clinical systems, a defined purpose and a plan for storage and sharing.
- Give parents clear facts about current function and the next test while acknowledging uncertainty; avoid assigning blame or predicting development before evidence exists.
Key red flags
Cyanosis that does not correct as expected, weak femoral pulses, differential saturations, hepatomegaly or shock requires urgent congenital heart disease assessment and duct-dependent lesion consideration.
Bilious vomiting, abdominal distension, peritonism or failure to pass meconium needs immediate neonatal surgical review and appropriate imaging.
Stridor, recurrent desaturation, excessive secretions, coughing with feeds or inability to pass a nasogastric tube can indicate a dangerous airway or foregut anomaly.
Anuria, a palpable abdominal mass, genital appearance suggesting a difference in sex development with salt-loss physiology, or severe electrolyte disturbance requires urgent renal or endocrine assessment.
Seizures, apnoea, rapidly increasing head circumference or a tense fontanelle warrants emergency neurological and metabolic evaluation.
An injury or genital finding inconsistent with development or history still requires safeguarding assessment; congenital difference must not become an automatic explanation.
Investigation priorities
Detect cardiac, eye, hip, testicular and other clinically important abnormalities systematically.
Management branches
A newborn with a congenital difference is cyanosed, shocked, obstructed, apnoeic, hypoglycaemic or seizing.
- Apply neonatal ABCDE, maintain temperature and glucose and call the relevant senior teams.
- Use focused bedside and imaging tests to identify immediately reversible cardiac, airway, surgical or metabolic disease.
- Document the anomaly without delaying transfer, antibiotics, prostaglandin discussion or other time-critical treatment.
The infant is stable enough for systematic assessment.
- Obtain prenatal, exposure, fetal, delivery and three-generation family histories from records and caregivers.
- Measure growth and perform a complete neutral head-to-toe structural, neurological and functional examination.
- List each finding, its certainty and verification source before proposing an explanatory syndrome.