Symptoms of Congenital Syphilis
Congenital syphilis presents with age-dependent manifestations: infants under 2 years show hepatosplenomegaly, rash, snuffles, jaundice, pseudoparalysis, anemia, and edema, while older children develop late stigmata including interstitial keratitis, nerve deafness, Hutchinson teeth, saddle nose, and frontal bossing. 1
Early Manifestations (Birth to 2 Years)
The clinical spectrum varies widely, with many cases asymptomatic at birth and only severe cases clinically apparent initially. 1
Common Early Signs:
- Hepatosplenomegaly - enlarged liver and spleen 1, 2
- Rash - skin lesions that may be maculopapular 1, 2
- Condyloma lata - flat, wart-like lesions 1
- Snuffles - persistent nasal discharge/rhinitis 1, 2
- Jaundice - from nonviral hepatitis 1
- Pseudoparalysis - apparent paralysis of extremities from bone involvement 1, 2
- Anemia - hematological abnormalities that can be severe 1, 2, 3
- Edema - from nephrotic syndrome and/or malnutrition 1
Additional Early Findings:
- Low birth weight and intrauterine growth restriction 2, 4
- Osteolytic bone lesions visible on long-bone radiographs 2, 4
- Central nervous system infection 2
- Nonimmune hydrops 1
- Ascites and atypical hydrops 4
Severe Outcomes:
- Stillbirth - fetal death after 20 weeks gestation in mothers with untreated/inadequately treated syphilis 1, 2
- Neonatal death 2
- Premature birth 2
Late Manifestations (After 2 Years - Stigmata)
Older children develop characteristic stigmata that represent permanent sequelae of early infection. 1
Classic Late Stigmata:
- Interstitial keratitis - corneal inflammation 1
- Nerve deafness - sensorineural hearing loss 1
- Hutchinson teeth - notched, peg-shaped permanent incisors 1
- Mulberry molars - abnormal first molars 1
- Saddle nose - collapsed nasal bridge 1
- Frontal bossing - prominent forehead 1
- Anterior bowing of shins - saber shins 1
- Rhagades - linear scars around mouth 1
- Clutton joints - painless knee effusions 1
Prenatal/Fetal Findings
When detected antenatally, ultrasound may reveal: 4
- Hepatomegaly and splenomegaly 4
- Fetal growth restriction 4
- Elevated middle cerebral artery peak systolic velocity in context of ascites or hydrops 4
- Bowel abnormalities 4
- Brain abnormalities (rare and never isolated) 4
Important Clinical Caveats
Many infants are asymptomatic at birth despite infection, making maternal screening and serologic testing essential for diagnosis. 1, 2 The wide spectrum of severity means that only severe cases present with obvious clinical manifestations initially. 1
No individual sonographic sign or pattern is pathognomonic for fetal syphilis, so congenital syphilis must be considered in any fetus with ultrasound abnormalities suggestive of congenital infection. 4
Hematological disturbances can be severe enough to mimic leukemia or disseminated malignancy, representing a diagnostic pitfall. 3